Variant report

Variant	rs3776982
Chromosome Location	chr5:154248436-154248437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:154248173-154248556	HepG2	liver:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
2	CTCF	chr5:154248300-154248450	HCFaa	heart:	n/a	chr5:154248416-154248434
3	CTCF	chr5:154248352-154248483	GM12891	blood:	n/a	chr5:154248416-154248434
4	CTCF	chr5:154248361-154248482	LNCaP	prostate:	n/a	chr5:154248416-154248434
5	CTCF	chr5:154248384-154248462	GM19238	blood:	n/a	chr5:154248416-154248434
6	CTCF	chr5:154248400-154248550	HFF-Myc	foreskin:	n/a	chr5:154248416-154248434
7	RAD21	chr5:154248235-154248583	H1-hESC	embryonic stem cell:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
8	ZMIZ1	chr5:154248269-154248529	K562	blood:	n/a	n/a
9	CTCF	chr5:154248360-154248510	K562	blood:	n/a	chr5:154248416-154248434
10	CTCF	chr5:154248280-154248600	IMR90	lung:	n/a	chr5:154248416-154248434
11	CTCF	chr5:154248248-154248593	GM12878	blood:	n/a	chr5:154248416-154248434
12	SMC3	chr5:154248345-154248559	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr5:154248380-154248530	WERI-Rb-1	eye:	n/a	chr5:154248416-154248434
14	SMC3	chr5:154248158-154248739	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr5:154248300-154248450	BE2_C	brain:	n/a	chr5:154248416-154248434
16	CTCF	chr5:154248320-154248470	HEK293	kidney:	n/a	chr5:154248416-154248434
17	CTCF	chr5:154248395-154248463	GM13977	blood:	n/a	chr5:154248416-154248434
18	RAD21	chr5:154248206-154248629	HepG2	liver:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
19	TCF7L2	chr5:154248120-154248674	Hela-S3	cervix:	n/a	chr5:154248458-154248474 chr5:154248461-154248470 chr5:154248462-154248472 chr5:154248459-154248473 chr5:154248462-154248471 chr5:154248459-154248473 chr5:154248458-154248474
20	RAD21	chr5:154248158-154248661	MCF-7	breast:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
21	RAD21	chr5:154248213-154248580	HepG2	liver:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
22	CTCF	chr5:154248300-154248450	HRE	kidney:	n/a	chr5:154248416-154248434
23	CTCF	chr5:154248360-154248510	HFF	foreskin:	n/a	chr5:154248416-154248434
24	CTCF	chr5:154248345-154248486	GM12892	blood:	n/a	chr5:154248416-154248434
25	CTCF	chr5:154248311-154248525	HepG2	liver:	n/a	chr5:154248416-154248434
26	CTCF	chr5:154248300-154248450	Caco-2	colon:	n/a	chr5:154248416-154248434
27	CTCF	chr5:154248360-154248510	MCF-7	breast:	n/a	chr5:154248416-154248434
28	CTCF	chr5:154248340-154248490	SK-N-SH_RA	brain:	n/a	chr5:154248416-154248434
29	POLR2A	chr5:154248159-154248673	K562	blood:	n/a	n/a
30	CTCF	chr5:154248320-154248470	NHEK	skin:	n/a	chr5:154248416-154248434
31	CTCF	chr5:154248288-154248622	MCF-7	breast:	n/a	chr5:154248416-154248434
32	CTCF	chr5:154248385-154248461	GM12878	blood:	n/a	chr5:154248416-154248434
33	CTCF	chr5:154248349-154248454	Kidney_OC	kidney:	n/a	chr5:154248416-154248434
34	CTCF	chr5:154248350-154248497	NHEK	skin:	n/a	chr5:154248416-154248434
35	RAD21	chr5:154248050-154248737	MCF-7	breast:	n/a	chr5:154248367-154248381 chr5:154248534-154248548
36	CTCF	chr5:154248346-154248509	Medullo	brain:	n/a	chr5:154248416-154248434
37	CTCF	chr5:154248400-154248550	HepG2	liver:	n/a	chr5:154248416-154248434
38	CTCF	chr5:154248340-154248490	HEEpiC	esophagus:	n/a	chr5:154248416-154248434
39	CTCF	chr5:154248336-154248507	LNCaP	prostate:	n/a	chr5:154248416-154248434
40	POLR2A	chr5:154248191-154248516	MCF-7	breast:	n/a	n/a
41	RAD21	chr5:154248286-154248529	SK-N-SH_RA	brain:	n/a	chr5:154248367-154248381
42	POLR2A	chr5:154248114-154248662	K562	blood:	n/a	n/a
43	CTCF	chr5:154248320-154248470	AG04449	skin:	n/a	chr5:154248416-154248434
44	CTCF	chr5:154248300-154248450	NHDF-neo	bronchial:	n/a	chr5:154248416-154248434
45	CTCF	chr5:154248320-154248470	HBMEC	blood vessel:	n/a	chr5:154248416-154248434
46	CTCF	chr5:154248191-154248543	K562	blood:	n/a	chr5:154248416-154248434
47	CTCF	chr5:154248400-154248550	A549	lung:	n/a	chr5:154248416-154248434
48	CTCF	chr5:154248360-154248510	HA-sp	spinal cord:	n/a	chr5:154248416-154248434
49	CTCF	chr5:154248320-154248470	GM12873	blood:	n/a	chr5:154248416-154248434
50	TCF7L2	chr5:154248277-154248649	HCT-116	colon:	n/a	chr5:154248458-154248474 chr5:154248461-154248470 chr5:154248462-154248472 chr5:154248459-154248473 chr5:154248462-154248471 chr5:154248459-154248473 chr5:154248458-154248474

No.	Distal block	Cell Line	Cell type
1	chr5:154246985..154248678-chr5:154279767..154281709,2	MCF-7	breast:
2	chr5:154247235..154249855-chr5:154257849..154259847,2	MCF-7	breast:
3	chr5:154208613..154209447-chr5:154248029..154248877,3	MCF-7	breast:
4	chr5:154247949..154248840-chr5:154351902..154352460,2	MCF-7	breast:
5	chr5:154208549..154209229-chr5:154248041..154248815,2	MCF-7	breast:

Variant related genes	Relation type
CNOT8	TF binding region
ENSG00000263361	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10042134	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1233077	0.88[ASN][1000 genomes]
rs13181649	1.00[ASN][1000 genomes]
rs1390598	1.00[CHD][hapmap]
rs164192	1.00[ASN][1000 genomes]
rs164193	1.00[ASN][1000 genomes]
rs164194	1.00[ASN][1000 genomes]
rs164196	1.00[ASN][1000 genomes]
rs164198	1.00[CHD][hapmap]
rs17570361	1.00[CHD][hapmap]
rs180903	1.00[ASN][1000 genomes]
rs185323	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs189439	1.00[ASN][1000 genomes]
rs2059045	1.00[ASN][1000 genomes]
rs2112222	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544862	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544870	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544872	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544873	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544877	1.00[ASN][1000 genomes]
rs2544881	1.00[ASN][1000 genomes]
rs2544882	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs255530	1.00[ASN][1000 genomes]
rs2560069	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2644745	1.00[ASN][1000 genomes]
rs2688183	1.00[ASN][1000 genomes]
rs2688185	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2688192	1.00[ASN][1000 genomes]
rs2688202	1.00[ASN][1000 genomes]
rs2688209	1.00[ASN][1000 genomes]
rs32426	1.00[ASN][1000 genomes]
rs346572	1.00[ASN][1000 genomes]
rs346573	1.00[ASN][1000 genomes]
rs348734	1.00[ASN][1000 genomes]
rs348736	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs348737	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs348738	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs348746	1.00[ASN][1000 genomes]
rs348755	1.00[JPT][hapmap]
rs348758	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs39615	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs39953	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs40584	1.00[ASN][1000 genomes]
rs4958393	1.00[ASN][1000 genomes]
rs4958769	1.00[ASN][1000 genomes]
rs4958770	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59919514	0.88[ASN][1000 genomes]
rs60476447	1.00[ASN][1000 genomes]
rs60906140	0.83[ASN][1000 genomes]
rs61511229	1.00[ASN][1000 genomes]
rs61554631	0.88[ASN][1000 genomes]
rs6580117	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6580118	1.00[ASN][1000 genomes]
rs6580119	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6580121	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6879093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs702743	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73276745	1.00[ASN][1000 genomes]
rs73276760	0.88[ASN][1000 genomes]
rs73276766	0.88[ASN][1000 genomes]
rs73276769	0.88[ASN][1000 genomes]
rs73276780	0.88[ASN][1000 genomes]
rs73278805	1.00[ASN][1000 genomes]
rs73278819	1.00[ASN][1000 genomes]
rs73278843	1.00[ASN][1000 genomes]
rs7720521	0.94[ASN][1000 genomes]
rs7720538	1.00[ASN][1000 genomes]
rs7733367	1.00[ASN][1000 genomes]
rs816715	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816716	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs816733	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816736	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816737	1.00[ASN][1000 genomes]
rs816738	0.88[ASN][1000 genomes]
rs816739	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816740	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816742	1.00[ASN][1000 genomes]
rs816744	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816745	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816746	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs816748	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154239400-154249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:154239600-154263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:154240200-154249800	Weak transcription	Pancreas	Pancrea
4	chr5:154240400-154250200	Weak transcription	Fetal Brain Male	brain
5	chr5:154240600-154251000	Weak transcription	Fetal Heart	heart
6	chr5:154240600-154264800	Weak transcription	Stomach Mucosa	stomach
7	chr5:154240800-154249800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:154240800-154250200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:154240800-154256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:154241000-154255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:154242000-154248600	Strong transcription	K562	blood
12	chr5:154242000-154256800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:154242000-154257600	Strong transcription	Fetal Thymus	thymus
14	chr5:154242200-154256800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:154242200-154256800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:154242400-154257000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:154242400-154257000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:154242400-154257600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:154242400-154257600	Strong transcription	Liver	Liver
20	chr5:154242600-154249000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr5:154242800-154248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:154242800-154249000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:154242800-154256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:154242800-154256800	Strong transcription	Placenta	Placenta
25	chr5:154242800-154257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:154242800-154257000	Strong transcription	HUVEC	blood vessel
27	chr5:154242800-154257200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:154242800-154257600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:154243000-154251400	Weak transcription	Psoas Muscle	Psoas
30	chr5:154243200-154248600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:154243200-154256400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:154243200-154257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:154243200-154257200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:154243200-154257200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:154243200-154257600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:154243400-154256800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:154243400-154257000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:154243400-154257200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:154243600-154257200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:154243800-154248600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:154243800-154250400	Weak transcription	Hela-S3	cervix
42	chr5:154243800-154257400	Strong transcription	Dnd41	blood
43	chr5:154244400-154250200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:154244600-154248600	Strong transcription	HMEC	breast
45	chr5:154244600-154257600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:154245000-154248600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:154245400-154250000	Weak transcription	Fetal Kidney	kidney
48	chr5:154245800-154250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:154245800-154250200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:154245800-154250200	Weak transcription	Brain Substantia Nigra	brain

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