Variant report

Variant	nsv482192
Chromosome Location	chr16:30960405-30966258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1232)
CpG islands
(count:306)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30961426-30961679	K562	blood:	n/a	n/a
2	ARID3A	chr16:30961281-30961724	HepG2	liver:	n/a	n/a
3	ATF1	chr16:30961258-30961658	K562	blood:	n/a	n/a
4	ATF2	chr16:30960081-30960574	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr16:30964954-30965394	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr16:30961168-30961868	GM12878	blood:	n/a	n/a
7	ATF2	chr16:30960163-30960553	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr16:30964936-30965377	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr16:30961064-30961083	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr16:30959455-30960759	A549	lung:	n/a	n/a
11	BCL3	chr16:30961203-30961860	GM12878	blood:	n/a	chr16:30961396-30961403 chr16:30961476-30961485
12	BCL3	chr16:30960105-30960867	GM12878	blood:	n/a	n/a
13	BCLAF1	chr16:30959967-30960752	GM12878	blood:	n/a	n/a
14	BCLAF1	chr16:30964922-30965386	GM12878	blood:	n/a	n/a
15	BCLAF1	chr16:30964941-30965450	GM12878	blood:	n/a	n/a
16	BHLHE40	chr16:30961317-30961760	GM12878	blood:	n/a	n/a
17	BHLHE40	chr16:30960208-30960457	GM12878	blood:	n/a	chr16:30960420-30960436
18	BHLHE40	chr16:30964985-30965238	K562	blood:	n/a	n/a
19	BHLHE40	chr16:30961147-30961800	K562	blood:	n/a	n/a
20	BHLHE40	chr16:30960307-30960494	K562	blood:	n/a	chr16:30960420-30960436
21	BHLHE40	chr16:30965031-30965238	GM12878	blood:	n/a	n/a
22	BRCA1	chr16:30960401-30960585	GM12878	blood:	n/a	n/a
23	BRCA1	chr16:30965062-30965214	HepG2	liver:	n/a	n/a
24	BRCA1	chr16:30961331-30961772	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr16:30961318-30961426	HepG2	liver:	n/a	n/a
26	CBX3	chr16:30964891-30965293	K562	blood:	n/a	n/a
27	CBX3	chr16:30960277-30960576	K562	blood:	n/a	n/a
28	CBX3	chr16:30961137-30961795	K562	blood:	n/a	n/a
29	CCNT2	chr16:30961245-30961743	K562	blood:	n/a	n/a
30	CCNT2	chr16:30959981-30960832	K562	blood:	n/a	chr16:30960231-30960240
31	CCNT2	chr16:30962289-30962303	K562	blood:	n/a	n/a
32	CEBPB	chr16:30961281-30961773	HepG2	liver:	n/a	n/a
33	CEBPB	chr16:30961310-30961563	K562	blood:	n/a	n/a
34	CEBPB	chr16:30961255-30961808	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr16:30961328-30961583	HepG2	liver:	n/a	n/a
36	CEBPB	chr16:30965203-30965444	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:30961237-30961615	K562	blood:	n/a	n/a
38	CEBPB	chr16:30961401-30961468	A549	lung:	n/a	n/a
39	CEBPB	chr16:30961255-30961635	K562	blood:	n/a	n/a
40	CEBPB	chr16:30961316-30961673	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:30961313-30961589	IMR90	lung:	n/a	n/a
42	CEBPD	chr16:30961110-30961739	K562	blood:	n/a	n/a
43	CEBPD	chr16:30964704-30965462	HepG2	liver:	n/a	n/a
44	CEBPD	chr16:30960945-30961815	HepG2	liver:	n/a	n/a
45	CEBPD	chr16:30960855-30961825	K562	blood:	n/a	n/a
46	CEBPD	chr16:30959884-30960880	HepG2	liver:	n/a	n/a
47	CEBPD	chr16:30961323-30961621	HepG2	liver:	n/a	n/a
48	CHD1	chr16:30960106-30961800	GM12878	blood:	n/a	n/a
49	CHD2	chr16:30965091-30965252	GM12878	blood:	n/a	n/a
50	CHD2	chr16:30961310-30961407	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30960753-30960803	HL-60	blood:	n/a
2	chr16:30960753-30960803	HL-60	blood:	n/a
3	chr16:30960864-30960914	LNCaP	prostate:	n/a
4	chr16:30960864-30960914	RPTEC	kidney:	n/a
5	chr16:30960753-30960803	RPTEC	kidney:	n/a
6	chr16:30961581-30961631	HNPCEpiC	eye:	n/a
7	chr16:30960864-30960914	SK-N-SH_RA	brain:	n/a
8	chr16:30964627-30964677	IMR90	lung:	fetal
9	chr16:30960864-30960914	GM12891	blood:	n/a
10	chr16:30964627-30964677	Caco-2	colon:	n/a
11	chr16:30960753-30960803	AG04450	lung:	fetal
12	chr16:30960483-30960533	NHBE	bronchial:	n/a
13	chr16:30960753-30960803	Caco-2	colon:	n/a
14	chr16:30960864-30960914	NHBE	bronchial:	n/a
15	chr16:30960864-30960914	HIPEpiC	eye:	n/a
16	chr16:30960483-30960533	A549	lung:	n/a
17	chr16:30960864-30960914	NHDF-neo	bronchial:	n/a
18	chr16:30960483-30960533	HNPCEpiC	eye:	n/a
19	chr16:30960864-30960914	NT2-D1	testis:	n/a
20	chr16:30960864-30960914	MCF-7	breast:	n/a
21	chr16:30964627-30964677	HEK293	kidney:	embryo
22	chr16:30964627-30964677	BJ	skin:	n/a
23	chr16:30960483-30960533	NT2-D1	testis:	n/a
24	chr16:30961581-30961631	H1-hESC	embryonic stem cell:	embryo
25	chr16:30960753-30960803	HPAEpiC	pulmonary alveolar:	n/a
26	chr16:30960864-30960914	PFSK-1	brain:	n/a
27	chr16:30960483-30960533	AG04449	skin:	fetal
28	chr16:30964627-30964677	MCF-7	breast:	n/a
29	chr16:30961581-30961631	AG10803	skin:	n/a
30	chr16:30960753-30960803	HAEpiC	amniotic membrane:	n/a
31	chr16:30960483-30960533	AG09319	gingival:	n/a
32	chr16:30961581-30961631	SK-N-SH	brain:	n/a
33	chr16:30960753-30960803	NB4	blood:	n/a
34	chr16:30960864-30960914	GM06990	blood:	n/a
35	chr16:30960483-30960533	HCM	heart:	n/a
36	chr16:30960483-30960533	CMK	blood:	n/a
37	chr16:30960483-30960533	ovcar-3	ovarian:	n/a
38	chr16:30960483-30960533	RPTEC	kidney:	n/a
39	chr16:30961581-30961631	HUVEC	blood vessel:	n/a
40	chr16:30960753-30960803	SKMC	muscle:	n/a
41	chr16:30961581-30961631	HCF	heart:	n/a
42	chr16:30961581-30961631	HAEpiC	amniotic membrane:	n/a
43	chr16:30960483-30960533	HIPEpiC	eye:	n/a
44	chr16:30960483-30960533	U87	brain:	n/a
45	chr16:30960483-30960533	HEK293	kidney:	embryo
46	chr16:30960483-30960533	BE2_C	brain:	n/a
47	chr16:30960753-30960803	HCPEpiC	choroid plexus:	n/a
48	chr16:30960864-30960914	HEEpiC	esophagus:	n/a
49	chr16:30964627-30964677	SK-N-SH	brain:	n/a
50	chr16:30960483-30960533	GM12892	blood:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30960482..30963722-chr16:31009124..31011668,3	K562	blood:
2	chr16:30960287..30962281-chr16:31451872..31454552,2	MCF-7	breast:
3	chr16:30959935..30962843-chr16:31083365..31086256,4	MCF-7	breast:
4	chr16:30960200..30961163-chr6:44214815..44215335,2	Hela-S3	cervix:
5	chr16:30959796..30961964-chr16:31083531..31085505,2	MCF-7	breast:
6	chr16:30907150..30909100-chr16:30959100..30961392,2	MCF-7	breast:
7	chr16:30796419..30799477-chr16:30959308..30961978,4	MCF-7	breast:
8	chr16:30750417..30753406-chr16:30958254..30961045,2	MCF-7	breast:
9	chr16:30770838..30772695-chr16:30960014..30962052,2	K562	blood:
10	chr16:30709030..30710951-chr16:30959452..30961503,2	MCF-7	breast:
11	chr16:30963425..30965140-chr16:30986397..30989206,2	MCF-7	breast:
12	chr16:30960242..30962054-chr16:31106031..31107586,2	K562	blood:
13	chr16:30933650..30935659-chr16:30958859..30961099,3	MCF-7	breast:
14	chr16:30964642..30965617-chr16:31106844..31107762,2	MCF-7	breast:
15	chr16:30793404..30794954-chr16:30961534..30963272,2	K562	blood:
16	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
17	chr16:30965141..30965649-chr16:31153438..31153943,2	K562	blood:
18	chr16:30953254..30955374-chr16:30963560..30966180,2	MCF-7	breast:
19	chr16:30964695..30965585-chr16:31106827..31107778,2	K562	blood:
20	chr16:30785797..30787464-chr16:30963811..30966272,2	MCF-7	breast:
21	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
22	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
23	chr16:30960366..30961296-chr6:88411722..88412389,2	Hela-S3	cervix:
24	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
25	chr16:30759480..30761817-chr16:30958726..30961352,2	MCF-7	breast:
26	chr16:30965209..30967609-chr16:30971840..30973677,2	MCF-7	breast:
27	chr12:52546103..52546684-chr16:30960984..30961946,2	Hela-S3	cervix:
28	chr16:30962472..30964372-chr16:31462988..31464590,2	MCF-7	breast:
29	chr16:30960892..30961766-chrX:118740243..118740846,2	Hela-S3	cervix:
30	chr16:30934102..30936150-chr16:30963527..30965846,2	K562	blood:
31	chr16:30962863..30964861-chr16:31468267..31470819,2	K562	blood:
32	chr16:30961306..30961817-chr2:136995914..136996435,2	Hela-S3	cervix:
33	chr16:30932022..30936181-chr16:30958194..30961985,7	K562	blood:
34	chr16:30932292..30934682-chr16:30962969..30965851,2	MCF-7	breast:
35	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
36	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
37	chr16:30912898..30915035-chr16:30962438..30965039,2	MCF-7	breast:
38	chr16:30960985..30961906-chr20:47894763..47895691,3	Hela-S3	cervix:
39	chr16:30959999..30961967-chr16:31197956..31199862,2	K562	blood:
40	chr16:30963767..30965339-chr16:31164383..31165945,2	K562	blood:
41	chr16:30952069..30953798-chr16:30963474..30966133,2	MCF-7	breast:
42	chr16:30958416..30960902-chr16:31103309..31106232,3	MCF-7	breast:
43	chr16:30775867..30778548-chr16:30959923..30961895,2	K562	blood:
44	chr16:30960089..30961847-chr16:31189954..31192995,3	MCF-7	breast:
45	chr16:30961038..30961636-chr5:38845963..38846496,2	Hela-S3	cervix:
46	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
47	chr16:30775867..30779905-chr16:30959923..30961895,3	K562	blood:
48	chr16:30947459..30949066-chr16:30961227..30963883,2	MCF-7	breast:
49	chr16:30670452..30672304-chr16:30960476..30962244,2	MCF-7	breast:
50	chr16:30960093..30962910-chr16:31117078..31118783,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ORAI3	hsa-miR-18a-5p	chr16:30966208-30966231
2	ORAI3	hsa-miR-18a-5p	chr16:30966224-30966230

Variant related genes	Relation type
ORAI3	TF binding region
SETD1A	TF binding region
ORAI3	CpG island
SETD1A	CpG island
ENSG00000102870	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000260625	chromatin interactions
ENSG00000140688	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000135334	chromatin interactions
ENSG00000261731	chromatin interactions
ENSG00000176723	chromatin interactions
ENSG00000260304	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000167397	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000255439	chromatin interactions
ENSG00000178226	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000197302	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000260060	chromatin interactions
ENSG00000260899	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000099365	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000266240	chromatin interactions
ENSG00000103507	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000150281	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544774621	chr16:30960415-30960416	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
2	rs557106187	chr16:30960421-30960422	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
3	rs575383938	chr16:30960429-30960430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
4	rs542673750	chr16:30960431-30960432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
5	rs560924550	chr16:30960448-30960449	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
6	rs528416724	chr16:30960477-30960478	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
7	rs540520557	chr16:30960506-30960507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
8	rs4889582	chr16:30960507-30960508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568474618	chr16:30960534-30960535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
10	rs369965093	chr16:30960556-30960557	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
11	rs4611481	chr16:30960557-30960558	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs4268761	chr16:30960558-30960559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs35221000	chr16:30960598-30960599	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs550329332	chr16:30960602-30960603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
15	rs371685363	chr16:30960603-30960604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
16	rs530116858	chr16:30960604-30960605	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
17	rs117745778	chr16:30960605-30960606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
18	rs368110163	chr16:30960606-30960607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
19	rs552843305	chr16:30960607-30960608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs571122937	chr16:30960609-30960610	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
21	rs542023664	chr16:30960612-30960613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs538461265	chr16:30960644-30960645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
23	rs371660902	chr16:30960646-30960647	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
24	rs201938176	chr16:30960694-30960695	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs376594375	chr16:30960702-30960703	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs575445949	chr16:30960731-30960732	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs368358471	chr16:30960732-30960733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
28	rs536343957	chr16:30960774-30960775	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
29	rs554316250	chr16:30960776-30960777	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
30	rs202026348	chr16:30960782-30960783	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
31	rs144740379	chr16:30960784-30960785	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
32	rs372235647	chr16:30960798-30960799	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
33	rs377253597	chr16:30960802-30960803	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs369806611	chr16:30960810-30960811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs565202284	chr16:30960821-30960822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs576699921	chr16:30960839-30960840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
37	rs112738021	chr16:30960884-30960885	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs202180769	chr16:30960896-30960897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs544034853	chr16:30960899-30960900	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs111398146	chr16:30960900-30960901	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs530177396	chr16:30960901-30960902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
42	rs375007677	chr16:30960903-30960904	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs548665750	chr16:30960918-30960919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
44	rs560344085	chr16:30960922-30960923	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
45	rs527700213	chr16:30960941-30960942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
46	rs552260911	chr16:30960946-30960947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
47	rs571191611	chr16:30961042-30961043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
48	rs538524941	chr16:30961045-30961046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
49	rs550438375	chr16:30961202-30961203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
50	rs568668661	chr16:30961236-30961237	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Prostate cancer	18632612	CNVD

Chromatin state (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30958000-30962200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30958800-30961000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr16:30958800-30961200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:30958800-30961600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:30958800-30961600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:30959000-30961000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr16:30959000-30961000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr16:30959000-30961000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:30959000-30961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:30959000-30961400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:30959200-30961000	Active TSS	Brain Angular Gyrus	brain
12	chr16:30959200-30961000	Active TSS	Colon Smooth Muscle	Colon
13	chr16:30959200-30961000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr16:30959200-30961200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:30959200-30961200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:30959200-30961200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:30959200-30961200	Active TSS	Brain Anterior Caudate	brain
18	chr16:30959200-30961200	Active TSS	NHDF-Ad	bronchial
19	chr16:30959200-30961400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr16:30959400-30960600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30959400-30961000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30959400-30961000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:30959400-30961000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:30959400-30961000	Active TSS	Brain Hippocampus Middle	brain
25	chr16:30959400-30961000	Active TSS	Brain Substantia Nigra	brain
26	chr16:30959400-30961000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr16:30959400-30961000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr16:30959400-30961000	Active TSS	Rectal Smooth Muscle	rectum
29	chr16:30959400-30961200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:30959400-30961400	Active TSS	Fetal Kidney	kidney
31	chr16:30959400-30961400	Active TSS	Ovary	ovary
32	chr16:30959400-30961800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:30959600-30960800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:30959600-30960800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr16:30959600-30960800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:30959600-30961000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:30959600-30961000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:30959600-30961000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:30959600-30961000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr16:30959600-30961000	Active TSS	Brain Cingulate Gyrus	brain
41	chr16:30959600-30961000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr16:30959600-30961000	Active TSS	Esophagus	oesophagus
43	chr16:30959600-30961000	Active TSS	Fetal Lung	lung
44	chr16:30959600-30961000	Active TSS	Fetal Stomach	stomach
45	chr16:30959600-30961000	Active TSS	Left Ventricle	heart
46	chr16:30959600-30961000	Active TSS	Pancreas	Pancrea
47	chr16:30959600-30961000	Active TSS	HSMM	muscle
48	chr16:30959600-30961000	Active TSS	NH-A	brain
49	chr16:30959600-30961000	Active TSS	Osteobl	bone
50	chr16:30959600-30961200	Active TSS	Aorta	Aorta

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