Variant report

Variant	rs12763878
Chromosome Location	chr10:91596427-91596428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:91590785..91592404-chr10:91594759..91597371,2	MCF-7	breast:
2	chr10:91596297..91598343-chr10:91607270..91608932,2	MCF-7	breast:
3	chr10:91596270..91598135-chr10:91628294..91631129,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1125326	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814174	0.82[CHB][hapmap]
rs12240414	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12244597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12252414	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263026	0.84[EUR][1000 genomes]
rs12265484	0.91[CEU][hapmap]
rs12763984	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766364	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770938	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12773439	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326198	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1326199	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408582	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17127746	0.81[EUR][1000 genomes]
rs17127968	0.81[EUR][1000 genomes]
rs17128049	0.97[ASN][1000 genomes]
rs17128178	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17385594	0.90[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148276	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181946	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2182397	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395627	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34407717	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34498741	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34498979	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34548995	0.84[EUR][1000 genomes]
rs34833458	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35305443	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494197	0.81[EUR][1000 genomes]
rs35495765	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35557724	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35569149	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35606974	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35762262	1.00[ASN][1000 genomes]
rs35768372	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36067049	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36075457	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740040	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802651	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55932503	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55977662	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246606	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318801	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57160906	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585079	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57603165	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58250931	0.95[ASN][1000 genomes]
rs58929000	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933281	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60925336	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61128077	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61303211	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61646033	1.00[ASN][1000 genomes]
rs61869791	1.00[ASN][1000 genomes]
rs61869800	0.95[ASN][1000 genomes]
rs61869806	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6583662	0.91[CEU][hapmap]
rs68147789	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076194	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076219	0.81[EUR][1000 genomes]
rs7083051	0.91[CEU][hapmap]
rs7098084	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7475158	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895272	0.81[EUR][1000 genomes]
rs7895851	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7895863	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs7899499	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7908739	0.84[EUR][1000 genomes]
rs7908779	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7908953	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7912390	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7918018	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046241	chr10:91478562-91614437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs12763878	RP11-248C1.3	cis	Thyroid	GTEx
rs12763878	LINC00865	cis	lung	GTEx
rs12763878	LINC00865	cis	Thyroid	GTEx
rs12763878	LINC00865	cis	Artery Aorta	GTEx
rs12763878	RP11-248C1.3	cis	Nerve Tibial	GTEx
rs12763878	LINC00865	cis	Adipose Subcutaneous	GTEx
rs12763878	LINC00865	cis	Artery Tibial	GTEx
rs12763878	RP11-248C1.3	cis	lung	GTEx
rs12763878	LINC00865	cis	Skin Sun Exposed Lower leg	GTEx
rs12763878	RP11-248C1.3	cis	Artery Tibial	GTEx
rs12763878	LINC00865	cis	Esophagus Muscularis	GTEx
rs12763878	RP11-248C1.3	cis	Artery Aorta	GTEx
rs12763878	RP11-248C1.3	cis	Esophagus Muscularis	GTEx
rs12763878	RP11-248C1.3	cis	Adipose Subcutaneous	GTEx
rs12763878	LINC00865	cis	Nerve Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91590600-91596600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr10:91596000-91596600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:91596000-91596800	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:91596200-91596600	Enhancers	Thymus	Thymus
5	chr10:91596400-91596600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:91596400-91596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:91596400-91596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:91596400-91596600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:91596400-91596600	Enhancers	Fetal Intestine Small	intestine
10	chr10:91596400-91596600	Enhancers	Fetal Stomach	stomach
11	chr10:91596400-91596600	Enhancers	Fetal Thymus	thymus
12	chr10:91596400-91596800	Enhancers	Primary B cells from cord blood	blood
13	chr10:91596400-91596800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr10:91596400-91596800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:91596400-91597000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr10:91596400-91597000	Active TSS	Brain Cingulate Gyrus	brain
17	chr10:91596400-91598000	Active TSS	Fetal Intestine Large	intestine

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