Variant report

Variant	rs3181129
Chromosome Location	chr10:97603178-97603179
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97602729-97603898	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:97602916-97603483	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97598780..97600551-chr10:97601857..97603469,2	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region
ENSG00000138185	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10736092	0.83[ASN][1000 genomes]
rs10736093	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10736094	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10748638	0.94[JPT][hapmap]
rs10748642	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10748643	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10748647	0.83[ASN][1000 genomes]
rs10748648	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10786229	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10786236	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10786237	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10786240	0.82[CHB][hapmap]
rs10786241	0.82[CHB][hapmap]
rs10786242	0.82[CHB][hapmap]
rs10882646	0.86[JPT][hapmap]
rs10882647	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10882651	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10882652	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10882656	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10882657	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10882660	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10882664	0.89[JPT][hapmap]
rs10882665	0.89[JPT][hapmap]
rs10882673	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10882674	0.83[ASN][1000 genomes]
rs10882675	0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10882676	0.88[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10882686	0.82[CHB][hapmap]
rs10882690	0.81[CHB][hapmap]
rs11188414	0.90[JPT][hapmap]
rs11188434	0.88[YRI][hapmap]
rs11188486	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11188497	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11188513	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12098522	0.80[YRI][hapmap]
rs12244559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1340837	0.88[CHB][hapmap]
rs1342790	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1342791	0.89[JPT][hapmap]
rs1418709	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs1573112	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1891534	0.83[ASN][1000 genomes]
rs1933165	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs1933167	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1933168	0.93[YRI][hapmap]
rs1933169	0.85[JPT][hapmap]
rs1935816	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051052	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2105359	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs2153913	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2153914	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2185818	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2211002	0.89[JPT][hapmap]
rs2226163	0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2275759	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2297788	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2861147	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2861148	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2861149	0.86[JPT][hapmap]
rs2861152	0.83[ASN][1000 genomes]
rs2901873	0.89[JPT][hapmap]
rs3176881	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3176890	0.83[ASN][1000 genomes]
rs3176891	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3181123	0.89[JPT][hapmap]
rs3181124	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3181131	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3181132	0.83[ASN][1000 genomes]
rs3814159	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3892344	0.83[ASN][1000 genomes]
rs3901451	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3929900	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3934409	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3949478	0.89[JPT][hapmap]
rs4074424	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4075310	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4075311	0.88[CHB][hapmap]
rs4303172	0.87[CHB][hapmap]
rs4396219	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4406763	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4412693	0.83[ASN][1000 genomes]
rs4431963	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4539246	0.83[ASN][1000 genomes]
rs4551688	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4582902	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4614366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917714	0.83[ASN][1000 genomes]
rs4917715	0.83[ASN][1000 genomes]
rs4918962	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4918973	0.92[EUR][1000 genomes]
rs5014871	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs6584013	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6584022	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6584023	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs6584027	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7067762	0.93[CHB][hapmap];0.95[JPT][hapmap]
rs7071836	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7074403	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7075081	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7077566	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7079312	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7083960	0.83[ASN][1000 genomes]
rs7086986	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7088584	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7088961	0.83[ASN][1000 genomes]
rs7095587	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7096248	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs7096317	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7097074	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7894648	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs7902190	0.84[JPT][hapmap]
rs7908691	0.82[CHB][hapmap]
rs7908923	0.84[YRI][hapmap]
rs7920801	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7922217	0.82[CHB][hapmap]
rs9663413	0.91[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3181129	ENTPD1	cis	Lymphoblastoid	GTEx
rs3181129	ENTPD1	cis	multi-tissue	Pritchard
rs3181129	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
2	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
3	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:97597400-97604600	Weak transcription	Lung	lung
6	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
7	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:97597600-97609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:97600600-97628600	Weak transcription	Colonic Mucosa	Colon
11	chr10:97601200-97624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:97601600-97624400	Weak transcription	Fetal Intestine Large	intestine
13	chr10:97601600-97635600	Weak transcription	Fetal Brain Male	brain
14	chr10:97601800-97603400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:97601800-97604200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:97601800-97605200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:97601800-97607200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:97601800-97607400	Weak transcription	Brain Anterior Caudate	brain
19	chr10:97601800-97608800	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:97601800-97609200	Strong transcription	GM12878-XiMat	blood
21	chr10:97601800-97624600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:97601800-97626000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:97601800-97626400	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:97601800-97627200	Weak transcription	Liver	Liver
25	chr10:97601800-97635400	Weak transcription	Brain Substantia Nigra	brain
26	chr10:97601800-97647800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:97602200-97605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:97602200-97611000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr10:97602400-97603600	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:97602400-97605200	Weak transcription	Fetal Kidney	kidney
31	chr10:97602400-97606000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr10:97602400-97607800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:97602400-97610800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr10:97602400-97611000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:97602400-97655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:97602600-97603200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:97602600-97603400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr10:97602600-97605600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr10:97602600-97610800	Strong transcription	Primary B cells from cord blood	blood
40	chr10:97602800-97603200	Genic enhancers	Duodenum Mucosa	Duodenum
41	chr10:97602800-97603400	Strong transcription	Fetal Stomach	stomach
42	chr10:97602800-97603800	Strong transcription	Spleen	Spleen
43	chr10:97603000-97624800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links