Variant report

Variant	esv1810780
Chromosome Location	chr16:30198079-30320296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4225)
CpG islands
(count:611)
Chromatin interactive
region (count:21)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4225 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:30198455-30198718	K562	blood:	n/a	n/a
2	ATF1	chr16:30289855-30290073	K562	blood:	n/a	n/a
3	ATF2	chr16:30198423-30199069	GM12878	blood:	n/a	n/a
4	ATF2	chr16:30198083-30199160	GM12878	blood:	n/a	n/a
5	BACH1	chr16:30198613-30198914	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr16:30198528-30198904	K562	blood:	n/a	n/a
7	BATF	chr16:30297523-30297979	GM12878	blood:	n/a	n/a
8	BATF	chr16:30300762-30300954	GM12878	blood:	n/a	n/a
9	BATF	chr16:30289827-30290210	GM12878	blood:	n/a	chr16:30290044-30290055
10	BATF	chr16:30299549-30300244	GM12878	blood:	n/a	n/a
11	BATF	chr16:30300298-30300596	GM12878	blood:	n/a	n/a
12	BATF	chr16:30289459-30289741	GM12878	blood:	n/a	n/a
13	BATF	chr16:30289456-30289664	GM12878	blood:	n/a	n/a
14	BATF	chr16:30297566-30297916	GM12878	blood:	n/a	n/a
15	BATF	chr16:30319863-30320064	GM12878	blood:	n/a	n/a
16	BATF	chr16:30302951-30303210	GM12878	blood:	n/a	n/a
17	BATF	chr16:30300239-30300587	GM12878	blood:	n/a	n/a
18	BATF	chr16:30281694-30281983	GM12878	blood:	n/a	n/a
19	BATF	chr16:30281598-30281838	GM12878	blood:	n/a	n/a
20	BATF	chr16:30289863-30290214	GM12878	blood:	n/a	chr16:30290044-30290055
21	BATF	chr16:30221859-30222069	GM12878	blood:	n/a	n/a
22	BATF	chr16:30277514-30277795	GM12878	blood:	n/a	n/a
23	BATF	chr16:30299474-30300218	GM12878	blood:	n/a	n/a
24	BATF	chr16:30288532-30288733	GM12878	blood:	n/a	n/a
25	BATF	chr16:30300748-30300974	GM12878	blood:	n/a	n/a
26	BATF	chr16:30305706-30305934	GM12878	blood:	n/a	n/a
27	BATF	chr16:30276188-30276522	GM12878	blood:	n/a	chr16:30276391-30276402
28	BATF	chr16:30254332-30254568	GM12878	blood:	n/a	n/a
29	BATF	chr16:30253881-30255413	GM12878	blood:	n/a	chr16:30254617-30254626
30	BATF	chr16:30287185-30287579	GM12878	blood:	n/a	n/a
31	BATF	chr16:30318819-30319302	GM12878	blood:	n/a	n/a
32	BATF	chr16:30277626-30277987	GM12878	blood:	n/a	n/a
33	BATF	chr16:30298135-30298343	GM12878	blood:	n/a	n/a
34	BATF	chr16:30288879-30289097	GM12878	blood:	n/a	n/a
35	BATF	chr16:30283247-30283707	GM12878	blood:	n/a	n/a
36	BATF	chr16:30274116-30274392	GM12878	blood:	n/a	n/a
37	BATF	chr16:30280187-30280431	GM12878	blood:	n/a	n/a
38	BATF	chr16:30298130-30298375	GM12878	blood:	n/a	n/a
39	BATF	chr16:30296504-30296687	GM12878	blood:	n/a	n/a
40	BATF	chr16:30305823-30306034	GM12878	blood:	n/a	n/a
41	BATF	chr16:30274122-30274547	GM12878	blood:	n/a	n/a
42	BATF	chr16:30292841-30293135	GM12878	blood:	n/a	n/a
43	BATF	chr16:30258549-30259033	GM12878	blood:	n/a	n/a
44	BATF	chr16:30234250-30234751	GM12878	blood:	n/a	n/a
45	BATF	chr16:30254596-30255384	GM12878	blood:	n/a	chr16:30254617-30254626
46	BATF	chr16:30268107-30268387	GM12878	blood:	n/a	n/a
47	BATF	chr16:30319855-30320094	GM12878	blood:	n/a	n/a
48	BATF	chr16:30318860-30319328	GM12878	blood:	n/a	n/a
49	BATF	chr16:30204418-30205489	GM12878	blood:	n/a	n/a
50	BATF	chr16:30268701-30268945	GM12878	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30206046-30206096	GM12878	blood:	n/a
2	chr16:30206046-30206096	GM12878	blood:	n/a
3	chr16:30198505-30198555	HepG2	liver:	n/a
4	chr16:30209202-30209252	HIPEpiC	eye:	n/a
5	chr16:30198505-30198555	H1-hESC	embryonic stem cell:	embryo
6	chr16:30206076-30206126	HRCEpiC	kidney:	n/a
7	chr16:30206076-30206126	PFSK-1	brain:	n/a
8	chr16:30206076-30206126	HNPCEpiC	eye:	n/a
9	chr16:30198509-30198559	AG10803	skin:	n/a
10	chr16:30206046-30206096	ovcar-3	ovarian:	n/a
11	chr16:30293906-30293956	SK-N-MC	brain:	n/a
12	chr16:30217452-30217502	HCT-116	colon:	n/a
13	chr16:30293906-30293956	HCPEpiC	choroid plexus:	n/a
14	chr16:30198517-30198567	ECC-1	luminal epithelium:	n/a
15	chr16:30198370-30198420	IMR90	lung:	fetal
16	chr16:30209202-30209252	NH-A	brain:	n/a
17	chr16:30206046-30206096	NT2-D1	testis:	n/a
18	chr16:30198370-30198420	Hepatocyte	liver:	n/a
19	chr16:30206046-30206096	NH-A	brain:	n/a
20	chr16:30217452-30217502	A549	lung:	n/a
21	chr16:30209202-30209252	CMK	blood:	n/a
22	chr16:30217452-30217502	BJ	skin:	n/a
23	chr16:30293906-30293956	IMR90	lung:	fetal
24	chr16:30206046-30206096	HIPEpiC	eye:	n/a
25	chr16:30198517-30198567	SAEC	small airway:	n/a
26	chr16:30217452-30217502	HRCEpiC	kidney:	n/a
27	chr16:30198509-30198559	HUVEC	blood vessel:	n/a
28	chr16:30209202-30209252	GM19239	blood:	n/a
29	chr16:30217452-30217502	AG04449	skin:	fetal
30	chr16:30198370-30198420	HUVEC	blood vessel:	n/a
31	chr16:30293906-30293956	SKMC	muscle:	n/a
32	chr16:30198505-30198555	AoSMC	blood vessel:	n/a
33	chr16:30293906-30293956	NH-A	brain:	n/a
34	chr16:30198509-30198559	MCF-7	breast:	n/a
35	chr16:30209202-30209252	HMEC	breast:	n/a
36	chr16:30206076-30206126	Hepatocyte	liver:	n/a
37	chr16:30198370-30198420	SAEC	small airway:	n/a
38	chr16:30293906-30293956	K562	blood:	n/a
39	chr16:30293906-30293956	GM12891	blood:	n/a
40	chr16:30206076-30206126	Hela-S3	cervix:	n/a
41	chr16:30198505-30198555	GM12891	blood:	n/a
42	chr16:30198505-30198555	GM12892	blood:	n/a
43	chr16:30217452-30217502	PrEC	prostate:	n/a
44	chr16:30217452-30217502	NH-A	brain:	n/a
45	chr16:30206076-30206126	NHBE	bronchial:	n/a
46	chr16:30206046-30206096	HCM	heart:	n/a
47	chr16:30217452-30217502	ProgFib	skin:	n/a
48	chr16:30206076-30206126	NB4	blood:	n/a
49	chr16:30198370-30198420	HCM	heart:	n/a
50	chr16:30198509-30198559	A549	lung:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30132759..30134974-chr16:30196981..30199413,2	MCF-7	breast:
2	chr16:30075111..30080393-chr16:30194482..30199026,7	MCF-7	breast:
3	chr16:30121828..30124583-chr16:30196625..30198544,2	MCF-7	breast:
4	chr16:30122445..30125435-chr16:30197147..30198801,2	K562	blood:
5	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
6	chr16:30198315..30198870-chr16:30420884..30421401,2	MCF-7	breast:
7	chr16:30102992..30106412-chr16:30196223..30199425,3	K562	blood:
8	chr16:30086324..30089424-chr16:30196059..30198552,4	MCF-7	breast:
9	chr1:12399202..12400121-chr16:30198326..30198844,2	K562	blood:
10	chr16:30124210..30124751-chr16:30198102..30199056,2	MCF-7	breast:
11	chr16:30076811..30079031-chr16:30197360..30200413,3	K562	blood:
12	chr16:30197720..30200168-chr16:30772376..30774510,2	MCF-7	breast:
13	chr16:30102992..30108322-chr16:30194679..30199860,7	K562	blood:
14	chr16:30099194..30104975-chr16:30193189..30199409,9	MCF-7	breast:
15	chr16:30073832..30076686-chr16:30197424..30199809,3	MCF-7	breast:
16	chr16:30197384..30200120-chr16:30417665..30420072,2	K562	blood:
17	chr16:30105196..30108316-chr16:30196676..30200078,3	MCF-7	breast:
18	chr16:30075696..30078954-chr16:30197360..30200413,3	K562	blood:
19	chr16:30122556..30125865-chr16:30196040..30198997,3	K562	blood:
20	chr16:30077452..30079715-chr16:30197226..30200095,2	MCF-7	breast:
21	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA2B-2	chr16:30216282-30216411	NONHSAT141724
2	lnc-BOLA2B-2	chr16:30215638-30216007	NONHSAT141724
3	lnc-SULT1A3.1-2	chr16:30225841-30226020	NONHSAT141727
4	lnc-SULT1A3.1-4	chr16:30235536-30235546	NONHSAT141729
5	lnc-SULT1A3.1-1	chr16:30208591-30208724	NONHSAT141721
6	lnc-SULT1A3.1-1	chr16:30207633-30208678	NONHSAT141720
7	lnc-BOLA2B-2	chr16:30216148-30216211	NONHSAT141724
8	lnc-SULT1A3.1-4	chr16:30236032-30237016	NONHSAT141729
9	lnc-SULT1A3.1-2	chr16:30225730-30225759	NONHSAT141727
10	lnc-BOLA2B-2	chr16:30217246-30217485	NONHSAT141724
11	lnc-BOLA2B-2	chr16:30217575-30218248	NONHSAT141724
12	lnc-SULT1A3.1-5	chr16:30275575-30275822	expReg_chr16_4358_+
13	lnc-SULT1A3.1-1	chr16:30214329-30214825	NONHSAT141723
14	lnc-SLX1A-1	chr16:30200005-30200575	NONHSAT141716
15	lnc-SULT1A3.1-1	chr16:30207979-30208422	NONHSAT141721
16	lnc-SULT1A3.1-1	chr16:30208758-30208851	NONHSAT141720
17	lnc-BOLA2B-2	chr16:30218197-30218221	NONHSAT141726
18	lnc-BOLA2B-2	chr16:30219849-30220392	NONHSAT141726

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CORO1A	hsa-miR-24-3p	chr16:30198442-30198465

Variant related genes	Relation type
ENSG00000198064	TF binding region
BOLA2B	TF binding region
ENSG00000239114	TF binding region
ENSG00000258130	TF binding region
SULT1A3	TF binding region
ENSG00000261203	TF binding region
ENSG00000261416	TF binding region
SLX1A	TF binding region
ENSG00000183604	TF binding region
CORO1A	TF binding region
ENSG00000261444	TF binding region
SLX1A-SULT1A3	TF binding region
ENSG00000198064	CpG island
BOLA2B	CpG island
ENSG00000239114	CpG island
ENSG00000258130	CpG island
SULT1A3	CpG island
ENSG00000261203	CpG island
ENSG00000261416	CpG island
SLX1A	CpG island
ENSG00000183604	CpG island
CORO1A	CpG island
ENSG00000261444	CpG island
SLX1A-SULT1A3	CpG island
ENSG00000179965	chromatin interactions
ENSG00000149923	chromatin interactions
ENSG00000102882	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000090238	chromatin interactions
ENSG00000250616	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000102886	chromatin interactions
ENSG00000196118	chromatin interactions

Extended variants
information (count: 640 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370723527	chr16:30198098-30198099	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs375095986	chr16:30198120-30198121	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs199732212	chr16:30198133-30198134	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs1132812	chr16:30198151-30198152	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs138146826	chr16:30198161-30198162	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs566260573	chr16:30198162-30198163	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs545835245	chr16:30198173-30198174	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs370896577	chr16:30198176-30198177	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs201721540	chr16:30198182-30198183	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs200437355	chr16:30198184-30198185	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs149599538	chr16:30198187-30198188	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs143294920	chr16:30198188-30198189	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs201119953	chr16:30198205-30198206	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs529431628	chr16:30198213-30198214	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs397514755	chr16:30198215-30198216	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs112123877	chr16:30198274-30198275	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs371493371	chr16:30198277-30198278	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs11864633	chr16:30198319-30198320	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs368186458	chr16:30198353-30198354	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs371653086	chr16:30198402-30198403	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs374849081	chr16:30198403-30198404	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs527428900	chr16:30198408-30198409	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs199752871	chr16:30198427-30198428	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs551747429	chr16:30198441-30198442	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs570148791	chr16:30198442-30198443	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
26	rs369595327	chr16:30198448-30198449	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
27	rs148312916	chr16:30198465-30198466	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
28	rs141746241	chr16:30198469-30198470	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs548894681	chr16:30198473-30198474	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs548533633	chr16:30198504-30198505	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs531482387	chr16:30198505-30198506	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs145989561	chr16:30198512-30198513	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs139989282	chr16:30198538-30198539	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs371818902	chr16:30198539-30198540	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs375950115	chr16:30198552-30198553	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs370019525	chr16:30198567-30198568	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs377012249	chr16:30198590-30198591	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs553938736	chr16:30198655-30198656	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs373881860	chr16:30198661-30198662	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs368928546	chr16:30198668-30198669	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs566028578	chr16:30198669-30198670	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs539954214	chr16:30198683-30198684	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs377504027	chr16:30198712-30198713	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs141827038	chr16:30198715-30198716	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs570312944	chr16:30198721-30198722	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs371077364	chr16:30198750-30198751	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs374088140	chr16:30198777-30198778	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs143729497	chr16:30198804-30198805	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs200060318	chr16:30198810-30198811	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs556055190	chr16:30198845-30198846	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Epilepsy	20502679	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
autism	21731881	CNVD
Developmental delay	22909776	CNVD
speech impairment	22909776	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30194400-30198400	Weak transcription	Fetal Heart	heart
2	chr16:30195000-30205800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:30195200-30199400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr16:30195400-30198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:30195400-30199200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr16:30195600-30198200	Weak transcription	NHLF	lung
7	chr16:30195600-30198600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr16:30195600-30198800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
9	chr16:30195600-30199200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:30195600-30199600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
11	chr16:30195800-30198200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:30195800-30198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30195800-30198400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:30195800-30198800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr16:30195800-30198800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:30195800-30199000	Enhancers	K562	blood
17	chr16:30195800-30199800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:30196000-30198800	Enhancers	Fetal Brain Male	brain
19	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
20	chr16:30196000-30199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
22	chr16:30196000-30199800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr16:30196000-30200600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:30196000-30205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:30196200-30198200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:30196200-30198400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:30196200-30198600	Weak transcription	Pancreas	Pancrea
28	chr16:30196200-30199000	Enhancers	HepG2	liver
29	chr16:30196200-30199600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:30196200-30199600	Weak transcription	Fetal Lung	lung
31	chr16:30196200-30201000	Weak transcription	NHEK	skin
32	chr16:30196400-30198400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:30196400-30198600	Weak transcription	Left Ventricle	heart
34	chr16:30196400-30198800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
35	chr16:30196400-30205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:30196400-30205800	Weak transcription	Brain Substantia Nigra	brain
37	chr16:30196400-30205800	Weak transcription	Right Atrium	heart
38	chr16:30196600-30198200	Weak transcription	Stomach Mucosa	stomach
39	chr16:30196600-30198600	Weak transcription	Liver	Liver
40	chr16:30196600-30199000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:30196800-30198200	Weak transcription	Gastric	stomach
42	chr16:30196800-30198200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr16:30196800-30198200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:30196800-30198400	Weak transcription	Fetal Intestine Large	intestine
45	chr16:30196800-30198400	Weak transcription	HMEC	breast
46	chr16:30196800-30198600	Weak transcription	Lung	lung
47	chr16:30197000-30198400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr16:30197000-30198600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr16:30197000-30199200	Enhancers	Placenta	Placenta
50	chr16:30197200-30198200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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