Variant report

Variant	rs1031979
Chromosome Location	chr8:54703768-54703769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54690844..54693046-chr8:54700903..54703804,2	K562	blood:
2	chr8:54702587..54705497-chr8:54714078..54716603,2	K562	blood:
3	chr8:54685641..54687590-chr8:54702056..54704049,2	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1031980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435587	1.00[CEU][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs11994467	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11996300	0.94[ASN][1000 genomes]
rs12056486	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12115070	0.83[EUR][1000 genomes]
rs12234972	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13276766	0.83[ASN][1000 genomes]
rs1552148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs16919508	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[MEX][hapmap]
rs16919522	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919534	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs16919571	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs1905061	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2128150	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2170444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2376011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757954	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41321146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs4236945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737192	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737753	1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs4737761	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs4737764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737765	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737974	1.00[CEU][hapmap];0.91[MEX][hapmap];0.90[EUR][1000 genomes]
rs4738025	1.00[CEU][hapmap]
rs4738027	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4738470	0.83[ASN][1000 genomes]
rs4738646	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs4738884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738916	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55682919	0.85[EUR][1000 genomes]
rs55876329	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964335	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56818292	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56956173	0.90[EUR][1000 genomes]
rs56973376	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57071607	0.83[EUR][1000 genomes]
rs57550901	0.85[EUR][1000 genomes]
rs58473841	0.83[ASN][1000 genomes]
rs58558817	0.92[ASN][1000 genomes]
rs61070518	0.85[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6984257	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986372	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs6987427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988009	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes]
rs6988808	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs6988812	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994851	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6997003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997127	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999454	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005696	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7006934	0.85[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs7018162	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73587624	0.82[ASN][1000 genomes]
rs73587627	0.83[ASN][1000 genomes]
rs73680316	0.85[EUR][1000 genomes]
rs73680321	0.90[EUR][1000 genomes]
rs73682549	0.93[EUR][1000 genomes]
rs73682551	0.93[EUR][1000 genomes]
rs73682552	0.85[EUR][1000 genomes]
rs73682555	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73682568	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73682570	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7843701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs900163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs958268	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs9643480	0.93[ASN][1000 genomes]
rs9643819	0.93[ASN][1000 genomes]
rs9643820	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
3	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54673400-54704000	Weak transcription	Right Ventricle	heart
5	chr8:54676600-54703800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:54681000-54707400	Weak transcription	NHLF	lung
7	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:54681200-54704000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:54681200-54707400	Weak transcription	Hela-S3	cervix
10	chr8:54681400-54703800	Weak transcription	HMEC	breast
11	chr8:54681400-54707600	Weak transcription	NH-A	brain
12	chr8:54682200-54703800	Weak transcription	Brain Anterior Caudate	brain
13	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
14	chr8:54687600-54711400	Weak transcription	NHDF-Ad	bronchial
15	chr8:54687600-54753600	Weak transcription	A549	lung
16	chr8:54687800-54712400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:54688000-54703800	Weak transcription	Small Intestine	intestine
18	chr8:54688000-54707400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:54688000-54712000	Weak transcription	Spleen	Spleen
20	chr8:54688000-54712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:54689200-54704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:54689600-54704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
24	chr8:54695400-54708000	Weak transcription	HSMMtube	muscle
25	chr8:54697600-54707800	Weak transcription	Osteobl	bone
26	chr8:54698000-54710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:54698200-54710400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr8:54698400-54706000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:54698600-54703800	Weak transcription	Fetal Lung	lung
30	chr8:54698600-54703800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:54698600-54712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:54698600-54716000	Weak transcription	Fetal Heart	heart
33	chr8:54698800-54710000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:54699000-54707600	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:54699200-54703800	Weak transcription	Adipose Nuclei	Adipose
36	chr8:54699200-54704000	Weak transcription	Gastric	stomach
37	chr8:54699200-54709400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:54699200-54709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:54699200-54712000	Weak transcription	Pancreas	Pancrea
40	chr8:54699200-54720000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:54699400-54703800	Weak transcription	Ovary	ovary
42	chr8:54699400-54706400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:54699400-54707800	Weak transcription	Fetal Brain Male	brain
44	chr8:54699600-54706400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:54699800-54703800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:54699800-54707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:54700000-54703800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:54700000-54707200	Weak transcription	K562	blood
49	chr8:54700000-54707400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:54700000-54707400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links