Variant report

Variant	rs1367386
Chromosome Location	chr2:10047828-10047829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10037952..10040907-chr2:10047681..10050214,2	K562	blood:
2	chr2:10039201..10042198-chr2:10045779..10048080,2	MCF-7	breast:
3	chr2:10047372..10050689-chr2:10052531..10055799,4	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1014509	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1036056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1036057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1036058	0.98[ASN][1000 genomes]
rs10495575	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1062160	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs10929617	0.95[ASN][1000 genomes]
rs10929618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1132838	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12470216	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12476490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12478489	0.88[ASN][1000 genomes]
rs12611655	0.95[ASN][1000 genomes]
rs12613533	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12613568	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617615	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12619769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12621415	0.91[ASN][1000 genomes]
rs12622420	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12623017	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12623213	0.87[ASN][1000 genomes]
rs12623372	0.89[ASN][1000 genomes]
rs1367387	0.80[ASN][1000 genomes]
rs1469542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1469543	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1469544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1469545	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1469546	0.90[ASN][1000 genomes]
rs1473962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs16867195	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs16867196	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs16867211	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs16867215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867242	0.99[ASN][1000 genomes]
rs1835427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1967517	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1967518	0.91[ASN][1000 genomes]
rs2280150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280151	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288640	0.85[ASN][1000 genomes]
rs2288644	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4143791	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4143792	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4143793	0.89[ASN][1000 genomes]
rs4444493	1.00[LWK][hapmap]
rs452480	0.88[ASN][1000 genomes]
rs4610025	0.94[ASN][1000 genomes]
rs4627538	0.87[ASN][1000 genomes]
rs4668651	0.80[CHB][hapmap]
rs4669470	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4669471	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4669472	0.92[ASN][1000 genomes]
rs4669473	0.92[ASN][1000 genomes]
rs4669475	0.94[ASN][1000 genomes]
rs4669476	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4669477	0.95[ASN][1000 genomes]
rs4669478	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4669479	0.97[ASN][1000 genomes]
rs4669481	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4669484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4669485	1.00[ASN][1000 genomes]
rs4669486	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669501	0.88[ASN][1000 genomes]
rs4669506	0.86[ASN][1000 genomes]
rs59288259	0.91[ASN][1000 genomes]
rs62127130	0.94[ASN][1000 genomes]
rs62127133	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62127134	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62127136	0.94[ASN][1000 genomes]
rs62127137	0.93[ASN][1000 genomes]
rs62127138	0.95[ASN][1000 genomes]
rs62127140	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62127143	0.97[ASN][1000 genomes]
rs62127144	0.97[ASN][1000 genomes]
rs62127145	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127146	0.98[ASN][1000 genomes]
rs62127463	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127466	0.98[ASN][1000 genomes]
rs62127471	0.90[ASN][1000 genomes]
rs62127563	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62127564	0.92[ASN][1000 genomes]
rs62127565	0.92[ASN][1000 genomes]
rs62129896	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6707551	0.92[ASN][1000 genomes]
rs718255	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs718256	0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs72782621	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72782635	0.95[ASN][1000 genomes]
rs7563385	0.91[ASN][1000 genomes]
rs7579559	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7602449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7608055	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv1009210	chr2:10030072-10052257	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1004743	chr2:10031389-10065624	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005938	chr2:10043181-10074384	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1003855	chr2:10045055-10059844	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1367386	TAF1B	cis	Nerve Tibial	GTEx
rs1367386	TAF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
4	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:10025000-10053800	Weak transcription	Ovary	ovary
8	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
11	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
12	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:10027400-10052200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:10027400-10053400	Weak transcription	Fetal Brain Male	brain
15	chr2:10027600-10052000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:10028200-10051000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:10028200-10053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
19	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:10033000-10052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:10036400-10052200	Weak transcription	Liver	Liver
23	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:10036800-10051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:10036800-10073000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:10037200-10051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:10038000-10049800	Weak transcription	K562	blood
30	chr2:10038000-10052600	Weak transcription	Fetal Kidney	kidney
31	chr2:10038000-10052800	Weak transcription	HUVEC	blood vessel
32	chr2:10038000-10053000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:10038000-10053600	Weak transcription	Fetal Lung	lung
34	chr2:10038000-10053800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:10038400-10048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:10038400-10051400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:10038400-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:10038400-10053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:10038400-10053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:10038400-10053800	Weak transcription	GM12878-XiMat	blood
41	chr2:10038400-10054400	Weak transcription	NHLF	lung
42	chr2:10038400-10054600	Weak transcription	Fetal Brain Female	brain
43	chr2:10038600-10048800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:10038600-10049000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:10038600-10049400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:10038600-10049400	Weak transcription	HSMMtube	muscle
47	chr2:10038600-10052800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:10038600-10053400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:10038600-10054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:10038600-10054400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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