Variant report

Variant	rs4614366
Chromosome Location	chr10:97596276-97596277
allele	A/G
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	EBF1	chr10:97596276-97596456	GM12878	blood:	n/a	chr10:97596276-97596289
2	MYBL2	chr10:97596212-97596757	HepG2	liver:	n/a	n/a
3	EP300	chr10:97596227-97596783	HepG2	liver:	n/a	n/a
4	NFIC	chr10:97596152-97596780	HepG2	liver:	n/a	n/a
5	HNF4A	chr10:97596211-97596725	HepG2	liver:	n/a	n/a
6	MAX	chr10:97596204-97596869	HepG2	liver:	n/a	n/a
7	EP300	chr10:97596214-97596732	HepG2	liver:	n/a	n/a
8	TEAD4	chr10:97596196-97596822	HepG2	liver:	n/a	n/a
9	PML	chr10:97596259-97598570	GM12878	blood:	n/a	n/a
10	MYBL2	chr10:97596240-97596770	HepG2	liver:	n/a	n/a
11	FOXA1	chr10:97596232-97596991	HepG2	liver:	n/a	n/a
12	HDAC2	chr10:97596272-97596658	HepG2	liver:	n/a	n/a
13	HNF4G	chr10:97596216-97596635	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:97596210-97598687	GM12878	blood:	n/a	n/a
15	HNF4A	chr10:97596276-97596676	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:97596267-97597994	GM12892	blood:	n/a	n/a
17	POLR2A	chr10:97596264-97598038	GM12891	blood:	n/a	n/a
18	FOXA2	chr10:97596018-97597222	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:97596230-97597047	HepG2	liver:	n/a	n/a
20	SP1	chr10:97596183-97596789	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:97596271-97598098	GM12892	blood:	n/a	n/a
22	POLR2A	chr10:97596232-97598128	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10736092	0.83[ASN][1000 genomes]
rs10736093	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10736094	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10748638	0.95[JPT][hapmap]
rs10748642	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10748643	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10748645	0.80[ASN][1000 genomes]
rs10748647	0.83[ASN][1000 genomes]
rs10748648	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10786229	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10786236	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10786237	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10882652	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[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	0.90[JPT][hapmap]
rs10882665	0.90[JPT][hapmap]
rs10882666	0.80[ASN][1000 genomes]
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	0.91[JPT][hapmap]
rs11188434	0.89[YRI][hapmap]
rs11188486	0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11188497	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11188513	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11517041	0.80[ASN][1000 genomes]
rs12098522	0.80[YRI][hapmap]
rs12244124	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12244559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1340837	0.88[CHB][hapmap]
rs1342790	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1342791	0.90[JPT][hapmap]
rs1418709	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs1573112	0.88[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1891534	0.82[ASN][1000 genomes]
rs1933165	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs1933167	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1933168	0.93[YRI][hapmap]
rs1933169	0.85[JPT][hapmap]
rs1935816	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051052	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2105359	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs2153913	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2153914	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2185818	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2211002	0.90[JPT][hapmap]
rs2226163	0.93[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2275273	0.95[JPT][hapmap]
rs2275759	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2297788	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[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]
rs2901872	0.80[ASN][1000 genomes]
rs2901873	0.90[JPT][hapmap]
rs3176881	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3176890	0.83[ASN][1000 genomes]
rs3176891	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3181123	0.90[JPT][hapmap]
rs3181124	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3181129	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]
rs3181131	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3181132	0.83[ASN][1000 genomes]
rs3814159	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs3892344	0.83[ASN][1000 genomes]
rs3901451	0.88[AFR][1000 genomes];0.94[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];0.95[JPT][hapmap]
rs3949478	0.90[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];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4406763	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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];0.95[JPT][hapmap]
rs4582902	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4917714	0.83[ASN][1000 genomes]
rs4917715	0.83[ASN][1000 genomes]
rs4918962	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4918969	0.80[ASN][1000 genomes]
rs4918973	0.92[EUR][1000 genomes]
rs5014871	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs6584013	0.87[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];0.95[JPT][hapmap]
rs6584030	0.80[ASN][1000 genomes]
rs7067762	0.93[CHB][hapmap];0.95[JPT][hapmap]
rs7071836	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7074403	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7075081	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7077566	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7079312	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7083960	0.83[ASN][1000 genomes]
rs7086986	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7088584	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7088961	0.82[ASN][1000 genomes]
rs7095587	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7096248	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7096317	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7097074	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7894648	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs7902190	0.85[JPT][hapmap]
rs7908691	0.82[CHB][hapmap]
rs7908923	0.84[YRI][hapmap]
rs7913082	0.80[ASN][1000 genomes]
rs7914286	0.80[ASN][1000 genomes]
rs7920801	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7922217	0.82[CHB][hapmap]
rs945958	0.86[JPT][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
rs4614366	ENTPD1	cis	Lymphoblastoid	GTEx
rs4614366	ENTPD1	cis	multi-tissue	Pritchard
rs4614366	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
4	chr10:97581000-97600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:97581200-97596400	Weak transcription	Small Intestine	intestine
6	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:97584600-97596800	Weak transcription	Brain Angular Gyrus	brain
8	chr10:97586200-97600000	Weak transcription	Fetal Intestine Small	intestine
9	chr10:97590200-97598800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr10:97591400-97596400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:97591600-97601000	Weak transcription	Spleen	Spleen
12	chr10:97592000-97602200	Enhancers	Primary B cells from cord blood	blood
13	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
14	chr10:97592600-97596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:97592600-97596600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:97592600-97596800	Weak transcription	Brain Anterior Caudate	brain
17	chr10:97592600-97597000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:97592800-97596600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:97592800-97600400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr10:97593000-97601400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:97593800-97596400	Weak transcription	Fetal Stomach	stomach
23	chr10:97594200-97596400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr10:97594200-97596400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:97594200-97601200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:97594200-97601400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:97594200-97602200	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:97594400-97600400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:97594600-97596400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:97594600-97596400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:97594600-97596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:97594800-97596400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:97595200-97596600	Enhancers	HepG2	liver
34	chr10:97595800-97597600	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:97596200-97596400	Weak transcription	Brain Substantia Nigra	brain
36	chr10:97596200-97596400	Genic enhancers	GM12878-XiMat	blood
37	chr10:97596200-97597400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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