Variant report

Variant	rs3181121
Chromosome Location	chr10:97618580-97618581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10509697	1.00[CHB][hapmap]
rs11188419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11188423	0.88[JPT][hapmap]
rs11188424	0.83[EUR][1000 genomes]
rs11188431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188433	0.88[JPT][hapmap]
rs11188448	0.85[EUR][1000 genomes]
rs11188450	0.85[EUR][1000 genomes]
rs11188451	0.85[EUR][1000 genomes]
rs11188461	0.90[EUR][1000 genomes]
rs11188466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188467	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11188479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188481	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188502	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188508	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11819621	1.00[CHB][hapmap]
rs11819652	1.00[CHB][hapmap]
rs12355114	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12357211	0.80[EUR][1000 genomes]
rs12358517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12784530	0.88[JPT][hapmap]
rs1414914	1.00[CHB][hapmap]
rs2275760	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282305	0.88[JPT][hapmap];0.81[MKK][hapmap]
rs2901895	1.00[CHB][hapmap]
rs3176882	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818833	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41291576	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4420188	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4512762	0.87[ASN][1000 genomes]
rs56747025	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57456033	0.87[AMR][1000 genomes]
rs58169787	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59502315	0.93[ASN][1000 genomes]
rs60144080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61503377	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61731067	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7073937	1.00[JPT][hapmap]
rs7090630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7093453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315224	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315254	0.93[ASN][1000 genomes]
rs73315260	0.97[ASN][1000 genomes]
rs73315285	0.87[ASN][1000 genomes]
rs73317145	0.87[ASN][1000 genomes]
rs73329287	0.85[EUR][1000 genomes]
rs73331134	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73333021	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898422	0.97[ASN][1000 genomes]
rs7907476	1.00[CHB][hapmap]
rs7909124	1.00[CHB][hapmap]
rs7912552	1.00[CHB][hapmap]
rs7913155	0.97[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3181121	ENTPD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
4	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
5	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:97600600-97628600	Weak transcription	Colonic Mucosa	Colon
7	chr10:97601200-97624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:97601600-97624400	Weak transcription	Fetal Intestine Large	intestine
9	chr10:97601600-97635600	Weak transcription	Fetal Brain Male	brain
10	chr10:97601800-97624600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:97601800-97626000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:97601800-97626400	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:97601800-97627200	Weak transcription	Liver	Liver
14	chr10:97601800-97635400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:97601800-97647800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:97602400-97655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:97603000-97624800	Weak transcription	Fetal Intestine Small	intestine
18	chr10:97603200-97624800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:97603800-97620200	Weak transcription	Spleen	Spleen
20	chr10:97605400-97620800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:97608400-97620000	Weak transcription	Left Ventricle	heart
22	chr10:97608400-97620000	Weak transcription	Lung	lung
23	chr10:97608400-97620000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:97609600-97627400	Weak transcription	Brain Anterior Caudate	brain
25	chr10:97609800-97620200	Weak transcription	Fetal Stomach	stomach
26	chr10:97609800-97620800	Weak transcription	Aorta	Aorta
27	chr10:97610000-97627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:97610200-97620000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:97610200-97620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:97610600-97620000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:97610600-97626000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:97610800-97620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:97610800-97620200	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:97615400-97634400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:97615800-97624400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr10:97615800-97633800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr10:97615800-97634400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr10:97616400-97620000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:97616800-97622800	Strong transcription	GM12878-XiMat	blood
40	chr10:97617600-97619000	Weak transcription	Primary B cells from cord blood	blood
41	chr10:97618000-97631200	Weak transcription	Psoas Muscle	Psoas
42	chr10:97618400-97619800	Enhancers	A549	lung
43	chr10:97618400-97626600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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