Variant report

Variant	esv3426811
Chromosome Location	chr3:133747687-133750235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:551)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:133749289-133749440	HepG2	liver:	n/a	n/a
2	BACH1	chr3:133748401-133748571	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:133748731-133749007	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr3:133748665-133748967	IMR90	lung:	n/a	n/a
5	CEBPB	chr3:133748659-133748956	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr3:133748643-133748957	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPD	chr3:133749149-133749492	HepG2	liver:	n/a	n/a
8	CHD2	chr3:133749282-133749500	HepG2	liver:	n/a	n/a
9	CHD2	chr3:133748489-133748551	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr3:133748808-133749361	H1-hESC	embryonic stem cell:	n/a	chr3:133748861-133748868
11	CHD2	chr3:133748955-133749017	HepG2	liver:	n/a	n/a
12	CREB1	chr3:133748153-133749187	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr3:133747551-133748878	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:133748324-133748393	GM19239	blood:	n/a	n/a
15	CTCF	chr3:133748368-133748389	NHEK	skin:	n/a	n/a
16	CTCF	chr3:133748380-133748530	HCPEpiC	choroid plexus:	n/a	chr3:133748432-133748445
17	CTCF	chr3:133747920-133748070	SAEC	small airway:	n/a	n/a
18	E2F4	chr3:133748654-133748911	MCF10A-Er-Src	breast:	n/a	chr3:133748861-133748868
19	E2F6	chr3:133748693-133749207	H1-hESC	embryonic stem cell:	n/a	chr3:133748861-133748868
20	E2F6	chr3:133747667-133749212	H1-hESC	embryonic stem cell:	n/a	chr3:133748018-133748030 chr3:133748861-133748868 chr3:133748008-133748017
21	EGR1	chr3:133748698-133749241	ECC-1	luminal epithelium:	n/a	n/a
22	EGR1	chr3:133748689-133749292	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr3:133749136-133749602	HepG2	liver:	n/a	n/a
24	EP300	chr3:133749153-133749623	HepG2	liver:	n/a	n/a
25	FOXA1	chr3:133749272-133749544	T-47D	breast:	n/a	n/a
26	FOXA1	chr3:133749122-133749641	HepG2	liver:	n/a	n/a
27	FOXA1	chr3:133749109-133749630	HepG2	liver:	n/a	n/a
28	FOXA1	chr3:133749038-133749635	HepG2	liver:	n/a	n/a
29	FOXA1	chr3:133749039-133749646	HepG2	liver:	n/a	n/a
30	FOXA2	chr3:133749172-133749612	HepG2	liver:	n/a	n/a
31	GATA3	chr3:133748154-133748453	T-47D	breast:	n/a	n/a
32	HDAC2	chr3:133749163-133749496	HepG2	liver:	n/a	n/a
33	HDAC2	chr3:133749152-133749636	HepG2	liver:	n/a	chr3:133749594-133749608
34	HNF4A	chr3:133749236-133749487	HepG2	liver:	n/a	chr3:133749369-133749384
35	HNF4A	chr3:133749224-133749502	HepG2	liver:	n/a	chr3:133749369-133749384
36	HNF4G	chr3:133749153-133749530	HepG2	liver:	n/a	n/a
37	MAFK	chr3:133749388-133749438	HepG2	liver:	n/a	n/a
38	MAFK	chr3:133749245-133749306	HepG2	liver:	n/a	n/a
39	MAX	chr3:133748455-133749609	HepG2	liver:	n/a	chr3:133748816-133748825
40	MAX	chr3:133747679-133749162	ECC-1	luminal epithelium:	n/a	chr3:133748816-133748825
41	MAX	chr3:133748728-133749674	HepG2	liver:	n/a	chr3:133748816-133748825
42	MAX	chr3:133748142-133748608	A549	lung:	n/a	n/a
43	MAX	chr3:133747689-133749248	ECC-1	luminal epithelium:	n/a	chr3:133748816-133748825
44	MAX	chr3:133748131-133749226	H1-hESC	embryonic stem cell:	n/a	chr3:133748816-133748825
45	MAX	chr3:133748080-133749183	H1-hESC	embryonic stem cell:	n/a	chr3:133748816-133748825
46	MAX	chr3:133748204-133748419	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr3:133748135-133749049	MCF-7	breast:	n/a	chr3:133748816-133748825
48	MAZ	chr3:133749275-133749491	HepG2	liver:	n/a	n/a
49	MBD4	chr3:133749227-133749503	HepG2	liver:	n/a	n/a
50	MXI1	chr3:133749280-133749377	H1-hESC	embryonic stem cell:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133749309-133749359	ProgFib	skin:	n/a
2	chr3:133748785-133748835	BE2_C	brain:	n/a
3	chr3:133749309-133749359	ProgFib	skin:	n/a
4	chr3:133748785-133748835	BE2_C	brain:	n/a
5	chr3:133749309-133749359	SK-N-SH	brain:	n/a
6	chr3:133748678-133748728	Hela-S3	cervix:	n/a
7	chr3:133748678-133748728	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:133748187-133748237	K562	blood:	n/a
9	chr3:133749309-133749359	NT2-D1	testis:	n/a
10	chr3:133749309-133749359	H1-hESC	embryonic stem cell:	embryo
11	chr3:133748809-133748859	GM19239	blood:	n/a
12	chr3:133748785-133748835	CMK	blood:	n/a
13	chr3:133748187-133748237	RPTEC	kidney:	n/a
14	chr3:133748809-133748859	HCF	heart:	n/a
15	chr3:133749284-133749334	HCM	heart:	n/a
16	chr3:133748785-133748835	HUVEC	blood vessel:	n/a
17	chr3:133749284-133749334	ECC-1	luminal epithelium:	n/a
18	chr3:133748785-133748835	ProgFib	skin:	n/a
19	chr3:133748505-133748555	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:133748187-133748237	HCM	heart:	n/a
21	chr3:133748505-133748555	CMK	blood:	n/a
22	chr3:133748809-133748859	K562	blood:	n/a
23	chr3:133748311-133748361	IMR90	lung:	fetal
24	chr3:133749309-133749359	HAEpiC	amniotic membrane:	n/a
25	chr3:133748678-133748728	AG04449	skin:	fetal
26	chr3:133748785-133748835	A549	lung:	n/a
27	chr3:133748311-133748361	GM12892	blood:	n/a
28	chr3:133748809-133748859	A549	lung:	n/a
29	chr3:133749284-133749334	BJ	skin:	n/a
30	chr3:133748785-133748835	U87	brain:	n/a
31	chr3:133748809-133748859	AG04449	skin:	fetal
32	chr3:133749309-133749359	HMEC	breast:	n/a
33	chr3:133748505-133748555	ovcar-3	ovarian:	n/a
34	chr3:133748115-133748165	HepG2	liver:	n/a
35	chr3:133748678-133748728	NB4	blood:	n/a
36	chr3:133748187-133748237	HRCEpiC	kidney:	n/a
37	chr3:133748115-133748165	HAEpiC	amniotic membrane:	n/a
38	chr3:133748187-133748237	HepG2	liver:	n/a
39	chr3:133748678-133748728	NT2-D1	testis:	n/a
40	chr3:133749284-133749334	A549	lung:	n/a
41	chr3:133748785-133748835	PFSK-1	brain:	n/a
42	chr3:133748187-133748237	GM12892	blood:	n/a
43	chr3:133748809-133748859	PrEC	prostate:	n/a
44	chr3:133748505-133748555	HUVEC	blood vessel:	n/a
45	chr3:133748809-133748859	HEK293	kidney:	embryo
46	chr3:133748785-133748835	ovcar-3	ovarian:	n/a
47	chr3:133748505-133748555	AG09319	gingival:	n/a
48	chr3:133748785-133748835	AG04450	lung:	fetal
49	chr3:133748505-133748555	HIPEpiC	eye:	n/a
50	chr3:133748785-133748835	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133683547..133684239-chr3:133747628..133748622,2	MCF-7	breast:
2	chr3:133646547..133649417-chr3:133747538..133750277,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLCO2A1	TF binding region
SLCO2A1	CpG island
ENSG00000221972	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559130137	chr3:133747697-133747698	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78488225	chr3:133747726-133747727	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541916538	chr3:133747727-133747728	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147155028	chr3:133747773-133747774	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113794937	chr3:133747798-133747799	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550715868	chr3:133747814-133747815	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189463865	chr3:133747815-133747816	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114183541	chr3:133747821-133747822	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77205713	chr3:133747841-133747842	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs67783969	chr3:133747842-133747843	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571898966	chr3:133747874-133747875	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547177102	chr3:133747896-133747897	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567063037	chr3:133747957-133747958	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371580715	chr3:133747975-133747976	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536082178	chr3:133747992-133747993	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554686427	chr3:133748009-133748010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374065938	chr3:133748039-133748040	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76254304	chr3:133748041-133748042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138272333	chr3:133748078-133748079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560725867	chr3:133748130-133748131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6762889	chr3:133748167-133748168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181465652	chr3:133748173-133748174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73864035	chr3:133748177-133748178	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6787185	chr3:133748181-133748182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541657783	chr3:133748225-133748226	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76224736	chr3:133748238-133748239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375749590	chr3:133748239-133748240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184216107	chr3:133748261-133748262	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73864036	chr3:133748266-133748267	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564334927	chr3:133748308-133748309	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146731617	chr3:133748317-133748318	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10700463	chr3:133748323-133748324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57940933	chr3:133748333-133748334	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201612037	chr3:133748334-133748335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547313019	chr3:133748336-133748337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560798961	chr3:133748342-133748343	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538621033	chr3:133748366-133748367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145400837	chr3:133748371-133748372	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369184169	chr3:133748380-133748381	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529472102	chr3:133748498-133748499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373061864	chr3:133748566-133748567	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201797879	chr3:133748570-133748571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370772926	chr3:133748573-133748574	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199757817	chr3:133748574-133748575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372764663	chr3:133748584-133748585	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201058175	chr3:133748597-133748598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149606360	chr3:133748711-133748712	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539074160	chr3:133748735-133748736	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144331408	chr3:133748763-133748764	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113569514	chr3:133748789-133748790	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133746200-133747800	Active TSS	Lung	lung
2	chr3:133746200-133749200	Active TSS	Right Atrium	heart
3	chr3:133746400-133747800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
4	chr3:133746400-133748200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr3:133746400-133748400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:133746600-133747800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:133746600-133747800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:133746600-133747800	Bivalent/Poised TSS	Fetal Thymus	thymus
9	chr3:133746600-133748000	Bivalent Enhancer	NHEK	skin
10	chr3:133746600-133749200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:133746800-133748400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:133747000-133747800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:133747000-133747800	Active TSS	Right Ventricle	heart
14	chr3:133747000-133747800	Bivalent/Poised TSS	Stomach Mucosa	stomach
15	chr3:133747000-133748000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:133747000-133749000	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr3:133747200-133747800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr3:133747200-133748000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:133747200-133748600	Flanking Active TSS	HUVEC	blood vessel
20	chr3:133747400-133747800	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr3:133747400-133748000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr3:133747400-133748600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr3:133747400-133748800	Active TSS	Gastric	stomach
24	chr3:133747600-133747800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr3:133747600-133747800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:133747600-133747800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:133747600-133747800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr3:133747600-133747800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr3:133747600-133747800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr3:133747600-133747800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
31	chr3:133747600-133747800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr3:133747600-133747800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr3:133747600-133747800	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr3:133747600-133747800	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr3:133747600-133747800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
36	chr3:133747600-133747800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr3:133747600-133747800	Flanking Active TSS	Spleen	Spleen
38	chr3:133747600-133747800	Bivalent Enhancer	HepG2	liver
39	chr3:133747600-133748000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr3:133747600-133748000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:133747600-133748000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr3:133747600-133748000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr3:133747600-133748000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:133747600-133748000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:133747600-133748000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
46	chr3:133747600-133748000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr3:133747600-133748000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:133747600-133748000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:133747600-133748000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr3:133747600-133748000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links