Variant report

Variant	rs1556763
Chromosome Location	chr1:197152149-197152150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197148315..197153030-chr1:197158427..197161690,6	K562	blood:
2	chr1:197151363..197153839-chr1:197168953..197170601,2	K562	blood:

Variant related genes	Relation type
ENSG00000177888	Chromatin interaction
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1034162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10429911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10494748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494750	1.00[CHB][hapmap]
rs10732295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10732296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10754219	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10801593	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10801594	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115247	0.87[CEU][hapmap]
rs11801772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11808524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11808883	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12092294	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs12677	0.88[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap]
rs1332662	0.87[CEU][hapmap]
rs1332663	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1412631	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs1412632	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs1412634	0.87[CEU][hapmap]
rs1415217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571964	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap]
rs16841212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841220	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841237	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1759013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1764629	0.81[EUR][1000 genomes]
rs1764800	1.00[CEU][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs1794003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1888991	0.94[ASW][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs2026429	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs2151134	1.00[CEU][hapmap]
rs4244141	0.95[EUR][1000 genomes]
rs4342879	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs4350226	1.00[CEU][hapmap]
rs476390	1.00[CEU][hapmap]
rs4915337	0.87[CEU][hapmap]
rs4915378	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915379	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs5029273	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs510135	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs518149	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs615647	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs616675	1.00[CEU][hapmap]
rs6428390	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656448	1.00[CEU][hapmap]
rs6656858	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap]
rs6677082	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap]
rs6701681	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6702739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6703400	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[TSI][hapmap]
rs7513826	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7520503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523013	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7534353	0.86[CEU][hapmap]
rs7534439	1.00[JPT][hapmap]
rs7535048	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7542397	0.87[CEU][hapmap]
rs7554802	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7554890	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7554995	0.98[EUR][1000 genomes]
rs877897	0.87[CEU][hapmap]
rs9726778	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
2	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:197121600-197154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
7	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
8	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
9	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
10	chr1:197125400-197156400	Weak transcription	Lung	lung
11	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
12	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
14	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
15	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
18	chr1:197129000-197155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:197130200-197156200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:197132400-197154800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:197132400-197156400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
27	chr1:197142400-197153400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:197142600-197152800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:197143000-197155000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
31	chr1:197143400-197154800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:197143600-197154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:197143600-197156000	Weak transcription	Thymus	Thymus
34	chr1:197143800-197154400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:197143800-197156000	Weak transcription	HMEC	breast
36	chr1:197144000-197154400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:197144200-197153000	Strong transcription	Fetal Intestine Large	intestine
38	chr1:197144200-197154400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:197144200-197154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:197144200-197155400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:197144400-197154800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:197144400-197155600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:197144400-197158200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:197145200-197157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:197145400-197154400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:197146400-197154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:197146600-197154800	Weak transcription	Brain Substantia Nigra	brain
48	chr1:197146600-197155400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:197146600-197155600	Weak transcription	Gastric	stomach
50	chr1:197146600-197156400	Weak transcription	H1 Cell Line	embryonic stem cell

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