Variant report

Variant	esv3338518
Chromosome Location	chr3:138663787-138666635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:437)
CpG islands
(count:977)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:138665913-138665957	K562	blood:	n/a	n/a
2	ATF1	chr3:138665829-138666172	K562	blood:	n/a	chr3:138666004-138666018
3	ATF3	chr3:138664245-138664490	K562	blood:	n/a	n/a
4	BACH1	chr3:138665821-138666009	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr3:138663796-138664347	K562	blood:	n/a	n/a
6	BHLHE40	chr3:138665062-138666787	K562	blood:	n/a	chr3:138665604-138665620
7	BRCA1	chr3:138665645-138665802	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr3:138663708-138664570	K562	blood:	n/a	n/a
9	CBX3	chr3:138665027-138665486	K562	blood:	n/a	n/a
10	CBX3	chr3:138665775-138666607	K562	blood:	n/a	n/a
11	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
12	CEBPB	chr3:138666552-138667023	K562	blood:	n/a	n/a
13	CEBPB	chr3:138665832-138666199	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr3:138665858-138666184	K562	blood:	n/a	n/a
15	CEBPB	chr3:138665919-138666064	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr3:138665004-138665161	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr3:138663925-138664245	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr3:138665620-138665820	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr3:138666096-138666298	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr3:138663780-138663979	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr3:138664310-138664482	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr3:138664743-138666192	K562	blood:	n/a	chr3:138665882-138665892
23	CHD2	chr3:138665016-138666333	Hela-S3	cervix:	n/a	chr3:138665882-138665892
24	CHD2	chr3:138665688-138665957	H1-hESC	embryonic stem cell:	n/a	chr3:138665882-138665892
25	CHD2	chr3:138665042-138665404	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr3:138663792-138664456	K562	blood:	n/a	n/a
27	CREB1	chr3:138665770-138666184	A549	lung:	n/a	n/a
28	CREB1	chr3:138664085-138664600	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr3:138663899-138664564	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr3:138664951-138665205	A549	lung:	n/a	n/a
31	CREB1	chr3:138665913-138666105	A549	lung:	n/a	n/a
32	CTBP2	chr3:138663148-138666770	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:138665120-138665270	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr3:138665104-138665329	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr3:138665197-138665242	GM12892	blood:	n/a	n/a
36	CTCF	chr3:138665109-138665342	ProgFib	skin:	n/a	n/a
37	CTCF	chr3:138665120-138665270	A549	lung:	n/a	n/a
38	CTCF	chr3:138665160-138665310	HMEC	breast:	n/a	n/a
39	CTCF	chr3:138665080-138665230	RPTEC	kidney:	n/a	n/a
40	CTCF	chr3:138665140-138665290	GM12874	blood:	n/a	n/a
41	CTCF	chr3:138665140-138665290	HRE	kidney:	n/a	n/a
42	CTCF	chr3:138665140-138665290	HCM	heart:	n/a	n/a
43	CTCF	chr3:138665128-138665326	GM19238	blood:	n/a	n/a
44	CTCF	chr3:138665123-138665275	GM13977	blood:	n/a	n/a
45	CTCF	chr3:138665120-138665270	K562	blood:	n/a	n/a
46	CTCF	chr3:138665140-138665290	AG09319	gingival:	n/a	n/a
47	CTCF	chr3:138665120-138665270	AG09309	skin:	n/a	n/a
48	CTCF	chr3:138665135-138665310	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:138665092-138665366	Gliobla	brain:	n/a	n/a
50	CTCF	chr3:138665048-138665296	A549	lung:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138666050-138666100	NT2-D1	testis:	n/a
2	chr3:138666050-138666100	NT2-D1	testis:	n/a
3	chr3:138664505-138664555	GM19239	blood:	n/a
4	chr3:138665006-138665056	SK-N-SH	brain:	n/a
5	chr3:138664505-138664555	HRCEpiC	kidney:	n/a
6	chr3:138665984-138666034	SAEC	small airway:	n/a
7	chr3:138664350-138664400	HCPEpiC	choroid plexus:	n/a
8	chr3:138665930-138665980	SKMC	muscle:	n/a
9	chr3:138666050-138666100	GM12892	blood:	n/a
10	chr3:138666050-138666100	AG09309	skin:	n/a
11	chr3:138664350-138664400	Hepatocyte	liver:	n/a
12	chr3:138666144-138666194	HCT-116	colon:	n/a
13	chr3:138665006-138665056	HAEpiC	amniotic membrane:	n/a
14	chr3:138665816-138665866	HIPEpiC	eye:	n/a
15	chr3:138666118-138666168	HL-60	blood:	n/a
16	chr3:138665816-138665866	AoSMC	blood vessel:	n/a
17	chr3:138666144-138666194	GM12892	blood:	n/a
18	chr3:138666144-138666194	GM19239	blood:	n/a
19	chr3:138666048-138666098	HCPEpiC	choroid plexus:	n/a
20	chr3:138666144-138666194	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:138666050-138666100	T-47D	breast:	n/a
22	chr3:138666040-138666090	PFSK-1	brain:	n/a
23	chr3:138664350-138664400	PANC-1	pancreas:	n/a
24	chr3:138666118-138666168	PFSK-1	brain:	n/a
25	chr3:138666473-138666523	PFSK-1	brain:	n/a
26	chr3:138666054-138666104	HUVEC	blood vessel:	n/a
27	chr3:138666118-138666168	HRE	kidney:	n/a
28	chr3:138666048-138666098	ovcar-3	ovarian:	n/a
29	chr3:138665006-138665056	IMR90	lung:	fetal
30	chr3:138666473-138666523	NB4	blood:	n/a
31	chr3:138664505-138664555	AoSMC	blood vessel:	n/a
32	chr3:138664350-138664400	ovcar-3	ovarian:	n/a
33	chr3:138666144-138666194	HEEpiC	esophagus:	n/a
34	chr3:138666473-138666523	HAEpiC	amniotic membrane:	n/a
35	chr3:138665957-138666007	HRCEpiC	kidney:	n/a
36	chr3:138666144-138666194	U87	brain:	n/a
37	chr3:138665654-138665704	HNPCEpiC	eye:	n/a
38	chr3:138666318-138666368	Hela-S3	cervix:	n/a
39	chr3:138665957-138666007	HAEpiC	amniotic membrane:	n/a
40	chr3:138666318-138666368	HCPEpiC	choroid plexus:	n/a
41	chr3:138665957-138666007	HCF	heart:	n/a
42	chr3:138666473-138666523	LNCaP	prostate:	n/a
43	chr3:138664350-138664400	AG09319	gingival:	n/a
44	chr3:138666040-138666090	HRPEpiC	eye:	n/a
45	chr3:138665816-138665866	Hela-S3	cervix:	n/a
46	chr3:138666473-138666523	RPTEC	kidney:	n/a
47	chr3:138665816-138665866	ovcar-3	ovarian:	n/a
48	chr3:138666048-138666098	NH-A	brain:	n/a
49	chr3:138665957-138666007	U87	brain:	n/a
50	chr3:138665816-138665866	NHDF-neo	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138663376..138665458-chr3:138892996..138895666,2	K562	blood:
2	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:
3	chr3:138552263..138555163-chr3:138665790..138667540,3	K562	blood:
4	chr3:138662930..138665142-chr3:139048462..139050899,2	K562	blood:
5	chr3:138663277..138665291-chr3:138920079..138922965,2	K562	blood:
6	chr3:138552568..138555141-chr3:138666105..138668600,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS22-3	chr3:138666454-138666849	NONHSAT092347

No data

Variant related genes	Relation type
ENSG00000244578	TF binding region
C3orf72	TF binding region
FOXL2	TF binding region
ENSG00000244578	CpG island
C3orf72	CpG island
FOXL2	CpG island
ENSG00000175110	chromatin interactions
ENSG00000051382	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531903461	chr3:138663802-138663803	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs180829214	chr3:138663815-138663816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185086382	chr3:138663820-138663821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367850391	chr3:138663830-138663831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115665190	chr3:138663843-138663844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557984777	chr3:138663857-138663858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577655196	chr3:138663909-138663910	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188432473	chr3:138663917-138663918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540216839	chr3:138663951-138663952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs181248112	chr3:138663962-138663963	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs571486112	chr3:138663981-138663982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574101318	chr3:138664003-138664004	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372084005	chr3:138664026-138664027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs542718212	chr3:138664030-138664031	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562710463	chr3:138664093-138664094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531357118	chr3:138664094-138664095	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545366458	chr3:138664095-138664096	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374179510	chr3:138664128-138664129	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs185607481	chr3:138664152-138664153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs114204440	chr3:138664189-138664190	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs547396660	chr3:138664204-138664205	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567245375	chr3:138664213-138664214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529812777	chr3:138664258-138664259	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs549571680	chr3:138664312-138664313	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs569438765	chr3:138664349-138664350	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538054141	chr3:138664357-138664358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs551689992	chr3:138664373-138664374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369818928	chr3:138664383-138664384	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs199498438	chr3:138664422-138664423	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs367789389	chr3:138664443-138664444	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs35625854	chr3:138664454-138664455	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs36043610	chr3:138664457-138664458	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201314625	chr3:138664459-138664460	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143272886	chr3:138664464-138664465	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377175851	chr3:138664485-138664486	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146709691	chr3:138664494-138664495	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183837821	chr3:138664512-138664513	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs201840174	chr3:138664520-138664521	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs140230355	chr3:138664536-138664537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372479512	chr3:138664540-138664541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375761943	chr3:138664551-138664552	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138198451	chr3:138664565-138664566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs370950963	chr3:138664707-138664708	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs104893738	chr3:138664743-138664744	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs28937885	chr3:138664793-138664794	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs113777439	chr3:138664795-138664796	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374564346	chr3:138664803-138664804	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs387906321	chr3:138664863-138664864	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs387906322	chr3:138664867-138664868	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs104893741	chr3:138664910-138664911	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Disorders of sex development	22315593	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	21321671	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138661800-138663800	Active TSS	Ovary	ovary
2	chr3:138662000-138663800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr3:138662000-138664000	Active TSS	K562	blood
4	chr3:138662200-138664000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:138662400-138663800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:138662400-138663800	Weak transcription	Pancreas	Pancrea
7	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:138662600-138663800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr3:138662800-138663800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr3:138662800-138663800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:138662800-138663800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr3:138662800-138663800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr3:138662800-138663800	Bivalent/Poised TSS	Right Ventricle	heart
14	chr3:138662800-138663800	Active TSS	NHDF-Ad	bronchial
15	chr3:138662800-138664000	Enhancers	Lung	lung
16	chr3:138662800-138664200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr3:138663000-138663800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:138663000-138663800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:138663000-138663800	Bivalent Enhancer	GM12878-XiMat	blood
21	chr3:138663000-138663800	Bivalent Enhancer	HepG2	liver
22	chr3:138663000-138664000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr3:138663000-138664200	Bivalent Enhancer	Brain Angular Gyrus	brain
24	chr3:138663000-138664600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr3:138663000-138664800	Weak transcription	A549	lung
26	chr3:138663000-138665000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
27	chr3:138663000-138665200	Bivalent Enhancer	Liver	Liver
28	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
31	chr3:138663200-138663800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr3:138663200-138663800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:138663200-138663800	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr3:138663200-138663800	Active TSS	Right Atrium	heart
35	chr3:138663200-138663800	Bivalent Enhancer	HUVEC	blood vessel
36	chr3:138663200-138664000	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr3:138663200-138664200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:138663200-138664200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:138663200-138664400	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr3:138663200-138664600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr3:138663200-138665200	Bivalent Enhancer	Placenta	Placenta
42	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
44	chr3:138663400-138663800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:138663400-138663800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:138663400-138663800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr3:138663400-138663800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr3:138663400-138663800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr3:138663400-138663800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:138663400-138663800	Bivalent Enhancer	Adipose Nuclei	Adipose

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