Variant report

Variant	rs882694
Chromosome Location	chr7:127496768-127496769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127495466..127498009-chr7:127499722..127503312,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1024910	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10954164	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768841	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11772303	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1193333	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1193335	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12539411	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12540484	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12667197	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12668077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672945	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12673293	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1345509	0.87[JPT][hapmap]
rs1419967	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419968	0.80[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs16871926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151229	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17151377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17151470	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241291	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402871	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2543477	0.82[EUR][1000 genomes]
rs2582717	1.00[CHB][hapmap];0.86[GIH][hapmap]
rs3757760	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757763	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757771	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3757778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757780	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779526	0.87[JPT][hapmap]
rs3779527	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3808056	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs3808077	0.94[JPT][hapmap]
rs3808078	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3808086	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823995	0.87[JPT][hapmap]
rs3824003	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728079	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731377	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56185520	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58106688	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59140894	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481385	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62481416	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481419	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481443	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481447	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481450	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467155	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6467156	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67338333	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944446	0.81[JPT][hapmap]
rs6973092	0.87[JPT][hapmap]
rs698408	0.81[ASN][1000 genomes]
rs712707	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs712715	0.81[ASN][1000 genomes]
rs712718	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs712719	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765971	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7789322	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806166	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs806172	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes]
rs806174	0.83[AMR][1000 genomes]
rs9791922	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs882694	GPR37	cis	cerebellum	SCAN
rs882694	GCC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127457000-127497800	Weak transcription	Gastric	stomach
2	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
3	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine
6	chr7:127484000-127497800	Weak transcription	Lung	lung
7	chr7:127484600-127497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:127484600-127497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:127484600-127497800	Weak transcription	NHEK	skin
10	chr7:127484600-127498000	Weak transcription	Left Ventricle	heart
11	chr7:127484600-127498800	Weak transcription	Esophagus	oesophagus
12	chr7:127484800-127498600	Weak transcription	Colonic Mucosa	Colon
13	chr7:127485000-127497800	Weak transcription	Pancreas	Pancrea
14	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
15	chr7:127485200-127498000	Weak transcription	Psoas Muscle	Psoas
16	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
17	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
19	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:127486200-127498000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:127486200-127498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:127486600-127497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:127486800-127497800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
25	chr7:127488200-127516400	Weak transcription	HMEC	breast
26	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:127488600-127498000	Weak transcription	Right Atrium	heart
28	chr7:127488600-127498800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:127488600-127499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:127489000-127498000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:127489000-127498200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:127489200-127498400	Weak transcription	Adipose Nuclei	Adipose
36	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:127489800-127497800	Weak transcription	HSMM	muscle
38	chr7:127490000-127498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:127490000-127500000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:127490800-127498000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:127491000-127497600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:127491000-127498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:127491200-127504800	Weak transcription	HepG2	liver
47	chr7:127491200-127505000	Weak transcription	Primary B cells from cord blood	blood
48	chr7:127491200-127512200	Weak transcription	A549	lung
49	chr7:127491400-127497600	Weak transcription	Fetal Intestine Large	intestine
50	chr7:127491400-127498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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