Variant report

Variant	rs10863785
Chromosome Location	chr1:209908876-209908877
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	chr1:209900061..209902674-chr1:209907942..209909580,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1000282	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1000283	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1007693	0.81[CEU][hapmap]
rs10157973	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs10863783	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119327	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119328	0.86[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119330	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119331	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119332	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119336	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119340	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs11119341	0.93[MEX][hapmap]
rs11485195	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487866	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487867	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs11806703	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11807619	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11808690	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11811440	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12030655	0.86[EUR][1000 genomes]
rs12034758	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12059226	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12060420	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12086634	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12090931	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12094117	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12116437	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120361	0.85[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12129718	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12138452	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1337531	0.90[EUR][1000 genomes]
rs1415542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1415544	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1474654	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1474655	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17015169	0.82[MEX][hapmap]
rs17389184	0.90[CEU][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs17389198	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1999826	0.92[EUR][1000 genomes]
rs2064148	0.90[EUR][1000 genomes]
rs2205985	0.89[EUR][1000 genomes]
rs2236903	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2272867	0.95[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2282738	0.90[CEU][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs2282739	0.95[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs2282741	0.90[EUR][1000 genomes]
rs2884090	0.90[EUR][1000 genomes]
rs3753606	0.82[MEX][hapmap]
rs3765240	0.92[EUR][1000 genomes]
rs3766618	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs3766619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3817821	0.84[EUR][1000 genomes]
rs4314885	0.89[EUR][1000 genomes]
rs4844891	0.95[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs61820570	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs627670	0.95[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs6540549	0.90[CEU][hapmap];0.88[TSI][hapmap]
rs6540550	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6540551	0.87[EUR][1000 genomes]
rs6540552	0.85[EUR][1000 genomes]
rs6540553	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs6540554	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs6665715	0.95[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs6672256	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs667681	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679099	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679405	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs6702301	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6752	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679846	0.83[EUR][1000 genomes]
rs7521461	0.85[EUR][1000 genomes]
rs7532324	0.99[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7539852	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548781	0.95[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7555978	0.87[EUR][1000 genomes]
rs909710	0.95[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs932335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430015	0.90[EUR][1000 genomes]
rs9430016	1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9430017	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1004343	chr1:209879304-209909385	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv525445	chr1:209885318-209912593	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10863785	TRAF3IP3	cis	Whole Blood	GTEx
rs10863785	SRGAP2	cis	parietal	SCAN
rs10863785	SYT14	cis	parietal	SCAN
rs10863785	IRF6	cis	cerebellum	SCAN
rs10863785	HSD11B1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209902400-209915000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:209902400-209915400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:209903000-209915200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:209906200-209909200	Genic enhancers	Liver	Liver
5	chr1:209906400-209914200	Weak transcription	Left Ventricle	heart
6	chr1:209906600-209909400	Weak transcription	Fetal Heart	heart
7	chr1:209906600-209914800	Weak transcription	Right Atrium	heart
8	chr1:209907600-209914800	Weak transcription	Spleen	Spleen
9	chr1:209907600-209920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209907800-209914600	Weak transcription	Right Ventricle	heart
11	chr1:209908000-209909000	Weak transcription	Ovary	ovary
12	chr1:209908000-209909400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:209908000-209909600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:209908000-209909600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:209908600-209909200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links