Variant report

Variant	rs6908761
Chromosome Location	chr6:37947809-37947810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11759458	1.00[JPT][hapmap]
rs11964613	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11964671	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11970017	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13195333	0.89[AFR][1000 genomes]
rs13198459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13200310	0.87[AMR][1000 genomes]
rs13203867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13205214	1.00[JPT][hapmap]
rs13207526	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13210087	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13210967	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs13212369	0.84[EUR][1000 genomes]
rs13217630	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13219500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16890185	1.00[JPT][hapmap]
rs16890194	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs16890301	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16890365	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2395689	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2453882	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645096	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645098	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645104	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645118	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645121	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645123	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645126	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28360531	0.81[AFR][1000 genomes]
rs28385568	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2842498	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2842499	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842514	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842516	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842524	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33997846	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34038972	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34123707	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406273	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34449592	0.92[AFR][1000 genomes]
rs34618835	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34634043	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34754573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35051126	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35202194	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35379375	0.87[AMR][1000 genomes]
rs35465740	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35549511	0.81[AFR][1000 genomes]
rs35559973	0.81[AFR][1000 genomes]
rs35575717	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35597126	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35653300	0.86[AFR][1000 genomes]
rs35815938	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs36069529	0.84[AFR][1000 genomes]
rs4394213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4711518	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs55943813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56678832	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6458037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908106	1.00[JPT][hapmap]
rs6910715	0.82[JPT][hapmap]
rs6910837	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6911481	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6916057	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs6916535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6917208	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][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];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6917736	0.94[AFR][1000 genomes]
rs6918802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6919884	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs6923132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6923254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6923665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6936260	0.82[JPT][hapmap]
rs6940491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569397	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71569399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569402	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71571304	0.84[EUR][1000 genomes]
rs7740636	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7750445	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7757560	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7762052	0.82[JPT][hapmap]
rs7766767	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7776025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9296236	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6908761	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:37929400-37953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:37934400-37949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:37940400-37948600	Weak transcription	HSMMtube	muscle
7	chr6:37942400-37953200	Weak transcription	Esophagus	oesophagus
8	chr6:37942800-37949600	Weak transcription	Spleen	Spleen
9	chr6:37942800-37953600	Weak transcription	HepG2	liver
10	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
11	chr6:37943000-37948800	Weak transcription	HSMM	muscle
12	chr6:37943000-37949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:37943000-37951600	Weak transcription	NHDF-Ad	bronchial
14	chr6:37943000-37953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
16	chr6:37943200-37951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:37943600-37951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:37943600-37952400	Weak transcription	Gastric	stomach
19	chr6:37944800-37952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:37945800-37949800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:37946200-37950400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:37946200-37953200	Weak transcription	GM12878-XiMat	blood
23	chr6:37946600-37948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:37946800-37948400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:37946800-37950400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:37946800-37955800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:37947000-37948000	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:37947000-37948200	Enhancers	HMEC	breast
29	chr6:37947000-37948200	Enhancers	NHEK	skin
30	chr6:37947000-37948400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:37947000-37948400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:37947000-37948600	Enhancers	Primary T cells from cord blood	blood
33	chr6:37947000-37949000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:37947000-37949000	Enhancers	Colon Smooth Muscle	Colon
35	chr6:37947000-37949800	Enhancers	Psoas Muscle	Psoas
36	chr6:37947000-37950400	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:37947200-37948400	Enhancers	Stomach Smooth Muscle	stomach
38	chr6:37947200-37948600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:37947200-37948800	Enhancers	Brain Germinal Matrix	brain
40	chr6:37947200-37949000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:37947200-37949000	Enhancers	Stomach Mucosa	stomach
42	chr6:37947200-37949200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:37947200-37949200	Enhancers	Right Ventricle	heart
44	chr6:37947200-37949400	Enhancers	Fetal Lung	lung
45	chr6:37947200-37949600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:37947200-37949800	Enhancers	Brain Anterior Caudate	brain
47	chr6:37947200-37949800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr6:37947200-37950000	Enhancers	Brain Hippocampus Middle	brain
49	chr6:37947200-37950000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:37947200-37950200	Enhancers	Primary T helper cells PMA-I stimulated	--

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