Variant report

Variant	rs10950035
Chromosome Location	chr7:65785785-65785786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10261710	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1065265	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10950036	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10950040	0.91[EUR][1000 genomes]
rs11763224	0.86[EUR][1000 genomes]
rs11766183	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11767262	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11770063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667200	0.92[ASN][1000 genomes]
rs12668269	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12670811	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12671152	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12671834	0.80[EUR][1000 genomes]
rs12672427	0.91[EUR][1000 genomes]
rs1547529	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17138149	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17138156	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1862085	0.87[EUR][1000 genomes]
rs1909508	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279757	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2420456	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420612	0.85[EUR][1000 genomes]
rs35459055	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735147	0.91[EUR][1000 genomes]
rs3936065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718325	0.94[EUR][1000 genomes]
rs4718335	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718346	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718348	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718364	0.84[EUR][1000 genomes]
rs6460276	0.81[EUR][1000 genomes]
rs6460281	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6460298	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66594357	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67775320	0.88[EUR][1000 genomes]
rs6945896	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6950988	0.87[EUR][1000 genomes]
rs6960848	0.89[EUR][1000 genomes]
rs6961853	0.84[EUR][1000 genomes]
rs6969224	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6970498	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6979636	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142233	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73142245	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73142265	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73146609	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148639	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73148689	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73150604	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73152714	0.84[EUR][1000 genomes]
rs7782212	0.93[EUR][1000 genomes]
rs7783889	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785117	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786735	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801332	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810213	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7811204	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10950035	GS1-124K5.11	cis	Thyroid	GTEx
rs10950035	GS1-124K5.4	cis	Stomach	GTEx
rs10950035	GTF2IRD1P1	cis	Thyroid	GTEx
rs10950035	RNU6-96P	cis	Thyroid	GTEx
rs10950035	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65763000-65786200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:65773400-65791000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:65773600-65786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:65773600-65791000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:65773800-65786000	Weak transcription	HMEC	breast
6	chr7:65773800-65791000	Weak transcription	NH-A	brain
7	chr7:65775600-65786200	Weak transcription	Gastric	stomach
8	chr7:65775600-65795800	Weak transcription	Ovary	ovary
9	chr7:65777000-65786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:65780400-65790200	Weak transcription	NHLF	lung
11	chr7:65780600-65786200	Weak transcription	Pancreas	Pancrea
12	chr7:65780600-65788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:65780600-65788800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:65780600-65790200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:65780600-65791000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:65782400-65791000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:65783600-65791000	Weak transcription	Osteobl	bone
18	chr7:65784600-65787800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:65785000-65786600	Weak transcription	Liver	Liver
20	chr7:65785000-65788800	Weak transcription	Fetal Lung	lung
21	chr7:65785000-65791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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