Variant report

Variant	esv3408231
Chromosome Location	chr1:47880890-47883738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr1:47882299-47883369	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:47882453-47882472	Lung_OC	lung:	n/a	n/a
3	E2F6	chr1:47882002-47883203	H1-hESC	embryonic stem cell:	n/a	chr1:47882316-47882328
4	E2F6	chr1:47882010-47883163	H1-hESC	embryonic stem cell:	n/a	chr1:47882316-47882328
5	E2F6	chr1:47882091-47882550	A549	lung:	n/a	chr1:47882316-47882328
6	GABPA	chr1:47882250-47882813	H1-hESC	embryonic stem cell:	n/a	n/a
7	GTF2F1	chr1:47882446-47882477	H1-hESC	embryonic stem cell:	n/a	n/a
8	HMGN3	chr1:47882626-47882745	K562	blood:	n/a	n/a
9	HMGN3	chr1:47882343-47882374	K562	blood:	n/a	n/a
10	JUND	chr1:47881703-47881732	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr1:47882376-47882527	A549	lung:	n/a	n/a
12	MAX	chr1:47882183-47882580	A549	lung:	n/a	n/a
13	MAX	chr1:47881990-47883170	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr1:47882318-47882549	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr1:47882014-47882707	A549	lung:	n/a	n/a
16	MAX	chr1:47882158-47883161	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr1:47882242-47882249	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:47882148-47882477	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr1:47882791-47883000	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3A	chr1:47882317-47882481	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr1:47881429-47881486	H1-hESC	embryonic stem cell:	n/a	n/a
22	SUZ12	chr1:47882166-47883532	H1-hESC	embryonic stem cell:	n/a	n/a
23	SUZ12	chr1:47881673-47883507	NT2-D1	testis:	n/a	n/a
24	YY1	chr1:47882195-47882554	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr1:47882149-47882581	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr1:47882038-47882049	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr1:47882937-47882940	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr1:47882355-47882372	H1-hESC	embryonic stem cell:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47883234-47883284	CMK	blood:	n/a
2	chr1:47882686-47882736	ECC-1	luminal epithelium:	n/a
3	chr1:47882936-47882986	HAEpiC	amniotic membrane:	n/a
4	chr1:47882739-47882789	HL-60	blood:	n/a
5	chr1:47881737-47881787	K562	blood:	n/a
6	chr1:47882322-47882372	AG09319	gingival:	n/a
7	chr1:47882265-47882315	Jurkat	blood:	n/a
8	chr1:47882936-47882986	HCT-116	colon:	n/a
9	chr1:47881737-47881787	AoSMC	blood vessel:	n/a
10	chr1:47882314-47882364	SKMC	muscle:	n/a
11	chr1:47882265-47882315	GM19239	blood:	n/a
12	chr1:47882322-47882372	GM12891	blood:	n/a
13	chr1:47882265-47882315	HRPEpiC	eye:	n/a
14	chr1:47881404-47881454	AG04450	lung:	fetal
15	chr1:47882936-47882986	NHDF-neo	bronchial:	n/a
16	chr1:47882686-47882736	SK-N-SH_RA	brain:	n/a
17	chr1:47882265-47882315	NT2-D1	testis:	n/a
18	chr1:47882265-47882315	HL-60	blood:	n/a
19	chr1:47881404-47881454	HCF	heart:	n/a
20	chr1:47882265-47882315	HCT-116	colon:	n/a
21	chr1:47882936-47882986	HNPCEpiC	eye:	n/a
22	chr1:47882739-47882789	GM12892	blood:	n/a
23	chr1:47882314-47882364	SK-N-SH_RA	brain:	n/a
24	chr1:47882322-47882372	HEEpiC	esophagus:	n/a
25	chr1:47882739-47882789	SAEC	small airway:	n/a
26	chr1:47882739-47882789	HRPEpiC	eye:	n/a
27	chr1:47882686-47882736	PrEC	prostate:	n/a
28	chr1:47882936-47882986	LNCaP	prostate:	n/a
29	chr1:47883234-47883284	HL-60	blood:	n/a
30	chr1:47882265-47882315	Hepatocyte	liver:	n/a
31	chr1:47882686-47882736	IMR90	lung:	fetal
32	chr1:47882686-47882736	HepG2	liver:	n/a
33	chr1:47881256-47881306	MCF-7	breast:	n/a
34	chr1:47881737-47881787	HIPEpiC	eye:	n/a
35	chr1:47881256-47881306	NHBE	bronchial:	n/a
36	chr1:47881404-47881454	AG10803	skin:	n/a
37	chr1:47883234-47883284	HEEpiC	esophagus:	n/a
38	chr1:47881737-47881787	SK-N-SH	brain:	n/a
39	chr1:47881256-47881306	SK-N-SH	brain:	n/a
40	chr1:47882265-47882315	SK-N-SH	brain:	n/a
41	chr1:47882686-47882736	PFSK-1	brain:	n/a
42	chr1:47881256-47881306	PANC-1	pancreas:	n/a
43	chr1:47881404-47881454	HRPEpiC	eye:	n/a
44	chr1:47881404-47881454	HEEpiC	esophagus:	n/a
45	chr1:47882936-47882986	H1-hESC	embryonic stem cell:	embryo
46	chr1:47882265-47882315	SKMC	muscle:	n/a
47	chr1:47882265-47882315	HEK293	kidney:	embryo
48	chr1:47881737-47881787	A549	lung:	n/a
49	chr1:47882686-47882736	HCPEpiC	choroid plexus:	n/a
50	chr1:47882314-47882364	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:
2	chr1:47882103..47884059-chr1:47889283..47891446,2	K562	blood:

No data

Variant related genes	Relation type
FOXE3	TF binding region
FOXE3	CpG island
ENSG00000225762	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145528607	chr1:47880904-47880905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72686268	chr1:47880925-47880926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373793112	chr1:47880980-47880981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567849902	chr1:47881021-47881022	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs80195527	chr1:47881030-47881031	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7416808	chr1:47881043-47881044	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188863646	chr1:47881077-47881078	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369621405	chr1:47881136-47881137	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192571039	chr1:47881141-47881142	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183579583	chr1:47881177-47881178	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546943208	chr1:47881181-47881182	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138223816	chr1:47881256-47881257	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143706195	chr1:47881340-47881341	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532500852	chr1:47881346-47881347	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551002932	chr1:47881352-47881353	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372316406	chr1:47881382-47881383	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535387956	chr1:47881396-47881397	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569313098	chr1:47881422-47881423	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536738920	chr1:47881423-47881424	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530179746	chr1:47881462-47881463	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543348401	chr1:47881575-47881576	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374272472	chr1:47881596-47881597	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546754969	chr1:47881664-47881665	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144689194	chr1:47881740-47881741	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375106916	chr1:47881749-47881750	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534842779	chr1:47881762-47881763	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552947867	chr1:47881799-47881800	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148499778	chr1:47881816-47881817	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544944945	chr1:47881841-47881842	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112907775	chr1:47881863-47881864	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556538004	chr1:47881867-47881868	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574923304	chr1:47881868-47881869	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542299729	chr1:47881871-47881872	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115705313	chr1:47881898-47881899	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573328952	chr1:47881906-47881907	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs137862650	chr1:47881907-47881908	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549863767	chr1:47881909-47881910	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565396647	chr1:47881910-47881911	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532843709	chr1:47881911-47881912	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551340839	chr1:47881917-47881918	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188265445	chr1:47881944-47881945	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566986648	chr1:47881956-47881957	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181190356	chr1:47881974-47881975	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12760137	chr1:47881978-47881979	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12760142	chr1:47881984-47881985	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548368038	chr1:47882038-47882039	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566961335	chr1:47882133-47882134	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534479543	chr1:47882145-47882146	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377669670	chr1:47882219-47882220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201158701	chr1:47882221-47882222	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47878000-47882000	Weak transcription	HSMM	muscle
2	chr1:47881000-47881200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr1:47881000-47882200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:47881000-47884800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47881200-47881800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:47881400-47881800	Bivalent Enhancer	Lung	lung
7	chr1:47881400-47883400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr1:47881600-47881800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr1:47881600-47881800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:47881600-47881800	Bivalent Enhancer	Fetal Kidney	kidney
11	chr1:47881600-47882200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr1:47881600-47882600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:47881600-47882600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:47881800-47882000	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr1:47881800-47882000	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr1:47881800-47882200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:47881800-47882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:47881800-47882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:47881800-47882200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr1:47881800-47882200	Bivalent Enhancer	Placenta	Placenta
26	chr1:47881800-47882400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:47881800-47882800	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr1:47881800-47882800	Enhancers	Gastric	stomach
29	chr1:47881800-47882800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr1:47881800-47883000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr1:47881800-47883000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:47881800-47883200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:47881800-47883200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:47881800-47883200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:47882000-47882200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:47882000-47882200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:47882000-47882200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:47882000-47882200	Enhancers	Pancreas	Pancrea
39	chr1:47882000-47882400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:47882000-47882400	Bivalent/Poised TSS	Thymus	Thymus
41	chr1:47882000-47882400	Bivalent/Poised TSS	NH-A	brain
42	chr1:47882000-47882800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:47882000-47882800	Active TSS	HSMM	muscle
44	chr1:47882000-47883000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:47882000-47883000	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr1:47882000-47883000	Bivalent/Poised TSS	Right Ventricle	heart
47	chr1:47882200-47882400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:47882200-47882400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr1:47882200-47882400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr1:47882200-47882400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links