Variant report

Variant	rs4130304
Chromosome Location	chr2:178190878-178190879
allele	A/G
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	REST	chr2:178190815-178191056	GM12878	blood:	n/a	chr2:178191006-178191015
2	REST	chr2:178190703-178191085	MCF-7	breast:	n/a	chr2:178191006-178191015
3	REST	chr2:178190743-178191090	K562	blood:	n/a	chr2:178191006-178191015
4	REST	chr2:178190825-178191031	H1-hESC	embryonic stem cell:	n/a	chr2:178191006-178191015
5	REST	chr2:178190780-178191138	MCF-7	breast:	n/a	chr2:178191006-178191015
6	REST	chr2:178190667-178191124	HL-60	blood:	n/a	chr2:178191006-178191015
7	REST	chr2:178190830-178191077	SK-N-SH	brain:	n/a	chr2:178191006-178191015
8	REST	chr2:178190699-178191099	SK-N-SH	brain:	n/a	chr2:178191006-178191015
9	REST	chr2:178190754-178191010	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr2:178190798-178191008	Hela-S3	cervix:	n/a	n/a
11	REST	chr2:178190842-178190974	K562	blood:	n/a	n/a
12	REST	chr2:178190870-178190964	GM12878	blood:	n/a	n/a
13	CEBPB	chr2:178190332-178190887	MCF-7	breast:	n/a	chr2:178190609-178190618 chr2:178190607-178190618 chr2:178190607-178190620 chr2:178190607-178190620 chr2:178190609-178190618 chr2:178190609-178190620 chr2:178190609-178190620 chr2:178190609-178190618 chr2:178190609-178190618 chr2:178190607-178190620

No.	Distal block	Cell Line	Cell type
1	chr2:178120960..178123424-chr2:178188023..178191497,3	K562	blood:
2	chr2:178127707..178130113-chr2:178188661..178192204,3	MCF-7	breast:
3	chr2:178127296..178131076-chr2:178188144..178194179,6	MCF-7	breast:
4	chr2:178076041..178077965-chr2:178189803..178191514,2	K562	blood:
5	chr2:178075137..178078610-chr2:178187212..178191303,4	K562	blood:
6	chr2:178187059..178189724-chr2:178189963..178191979,2	K562	blood:
7	chr2:178129794..178131672-chr2:178190249..178192185,2	K562	blood:
8	chr2:178129430..178133287-chr2:178190685..178195050,5	K562	blood:
9	chr2:178092578..178094284-chr2:178190511..178193072,2	K562	blood:
10	chr2:178177109..178180632-chr2:178187493..178191533,6	K562	blood:

Variant related genes	Relation type
ENSG00000213963	TF binding region
ENSG00000225808	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000170144	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10166244	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173008	0.91[EUR][1000 genomes]
rs10173159	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10173172	0.91[EUR][1000 genomes]
rs10176950	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179735	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10179975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182714	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10190306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10196753	0.90[EUR][1000 genomes]
rs10196915	0.90[EUR][1000 genomes]
rs10207932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930782	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10930783	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930785	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10930786	0.91[EUR][1000 genomes]
rs10930788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11674864	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11681133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692099	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692146	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889478	0.90[EUR][1000 genomes]
rs12478545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12623239	0.94[CEU][hapmap]
rs12693118	0.91[EUR][1000 genomes]
rs12693119	0.88[EUR][1000 genomes]
rs12987686	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992747	0.90[EUR][1000 genomes]
rs13001890	0.94[CEU][hapmap]
rs13002088	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13011915	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392350	1.00[JPT][hapmap]
rs1374438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1377491	0.94[CEU][hapmap]
rs1453374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453376	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs1463288	0.94[CEU][hapmap]
rs1466208	0.94[CEU][hapmap]
rs1530965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1551288	0.94[CEU][hapmap]
rs1551289	0.94[CEU][hapmap]
rs1597959	0.94[CEU][hapmap]
rs16865143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1867905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869357	0.90[EUR][1000 genomes]
rs1869358	0.89[EUR][1000 genomes]
rs1901823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1901828	0.94[CEU][hapmap]
rs2167902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2167904	0.94[CEU][hapmap]
rs2218575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272529	1.00[JPT][hapmap]
rs2364733	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2364847	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2364848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2444563	0.89[CEU][hapmap]
rs2602527	0.94[CEU][hapmap]
rs2602528	0.94[CEU][hapmap]
rs2706143	0.94[CEU][hapmap]
rs2706145	0.94[CEU][hapmap]
rs2706146	0.94[CEU][hapmap]
rs2706147	0.94[CEU][hapmap]
rs2706156	0.94[CEU][hapmap]
rs2706158	0.93[CEU][hapmap]
rs2706162	0.94[CEU][hapmap]
rs3754989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4243389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4402804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4585065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893955	1.00[CHB][hapmap]
rs6414095	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433661	0.87[EUR][1000 genomes]
rs6433662	0.90[EUR][1000 genomes]
rs6433666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6719278	0.90[EUR][1000 genomes]
rs6720934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6724177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6725331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6731409	0.90[EUR][1000 genomes]
rs6732113	0.90[EUR][1000 genomes]
rs6732250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6732256	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs6735504	1.00[CHB][hapmap]
rs6740092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6746113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73039071	0.81[ASN][1000 genomes]
rs73039075	0.81[ASN][1000 genomes]
rs7559715	0.94[CEU][hapmap]
rs7563082	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566319	0.81[ASN][1000 genomes]
rs7570297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7573583	0.94[CEU][hapmap]
rs7575328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7585952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588444	0.90[EUR][1000 genomes]
rs7594073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7601132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs952034	0.94[CEU][hapmap]
rs9941681	0.94[CEU][hapmap]

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178160800-178196200	Weak transcription	Ovary	ovary
2	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178175600-178191200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:178175600-178191600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:178175600-178191800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:178175800-178191000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:178176200-178191600	Weak transcription	Thymus	Thymus
8	chr2:178176400-178191400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:178178600-178191200	Weak transcription	Aorta	Aorta
10	chr2:178179200-178196600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:178179800-178191800	Weak transcription	K562	blood
12	chr2:178179800-178196800	Weak transcription	Fetal Brain Female	brain
13	chr2:178179800-178196800	Weak transcription	Osteobl	bone
14	chr2:178180400-178196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:178180800-178196400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:178182000-178192000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:178182400-178196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:178182800-178196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:178184000-178196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:178184400-178196600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:178184800-178192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:178184800-178196800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:178185400-178191400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:178185400-178191600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:178185600-178192600	Weak transcription	Right Ventricle	heart
26	chr2:178186400-178192200	Enhancers	HMEC	breast
27	chr2:178187000-178191000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:178187000-178191200	Enhancers	Liver	Liver
29	chr2:178187000-178192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:178187000-178194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:178187200-178193000	Enhancers	Stomach Mucosa	stomach
32	chr2:178187400-178196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:178187400-178196800	Weak transcription	Esophagus	oesophagus
34	chr2:178187600-178191200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:178187600-178193200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:178187600-178195000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:178187600-178196400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:178187600-178196800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:178187800-178191400	Weak transcription	Primary T cells from cord blood	blood
41	chr2:178187800-178191600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:178187800-178191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:178187800-178192600	Weak transcription	Spleen	Spleen
44	chr2:178187800-178196600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:178187800-178196600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:178187800-178196600	Weak transcription	Brain Anterior Caudate	brain
47	chr2:178187800-178196600	Weak transcription	Brain Substantia Nigra	brain
48	chr2:178187800-178196800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
50	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle

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