Variant report

Variant	rs7902190
Chromosome Location	chr10:97578827-97578828
allele	A/T
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	FOS	chr10:97578572-97578845	MCF10A-Er-Src	breast:	n/a	chr10:97578702-97578711
2	POLR2A	chr10:97576705-97578856	GM18505	blood:	n/a	n/a
3	BATF	chr10:97578469-97578844	GM12878	blood:	n/a	chr10:97578700-97578710 chr10:97578704-97578714
4	POLR2A	chr10:97574937-97578880	GM12891	blood:	n/a	n/a
5	FOSL2	chr10:97578465-97578884	SK-N-SH	brain:	n/a	chr10:97578702-97578711
6	JUND	chr10:97578526-97578889	HepG2	liver:	n/a	chr10:97578702-97578711 chr10:97578701-97578712
7	BATF	chr10:97578397-97578868	GM12878	blood:	n/a	chr10:97578700-97578710 chr10:97578704-97578714
8	STAT3	chr10:97578547-97578828	MCF10A-Er-Src	breast:	n/a	n/a
9	ATF2	chr10:97578269-97578936	GM12878	blood:	n/a	n/a
10	EP300	chr10:97578240-97579048	ECC-1	luminal epithelium:	n/a	chr10:97578703-97578712 chr10:97578595-97578605
11	TEAD4	chr10:97578316-97578895	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:97577868-97580068	GM12878	blood:	n/a	n/a
13	PML	chr10:97577579-97579044	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:97578211-97578921	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr10:97574825-97578894	GM12891	blood:	n/a	n/a
16	RCOR1	chr10:97578069-97578901	IMR90	lung:	n/a	n/a
17	NFATC1	chr10:97577508-97578895	GM12878	blood:	n/a	n/a
18	FOXA1	chr10:97578416-97578910	HepG2	liver:	n/a	n/a
19	TCF12	chr10:97578226-97578907	ECC-1	luminal epithelium:	n/a	chr10:97578632-97578641 chr10:97578596-97578605
20	BCLAF1	chr10:97578374-97578884	GM12878	blood:	n/a	n/a
21	SMC3	chr10:97578677-97578859	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:97578826-97579330	GM12891	blood:	n/a	n/a
23	NFIC	chr10:97578274-97578913	GM12878	blood:	n/a	n/a
24	FOS	chr10:97578476-97578846	MCF10A-Er-Src	breast:	n/a	chr10:97578702-97578711
25	NFATC1	chr10:97575708-97578846	GM12878	blood:	n/a	n/a
26	EP300	chr10:97578454-97578835	GM12878	blood:	n/a	chr10:97578703-97578712 chr10:97578595-97578605
27	TEAD4	chr10:97578284-97578955	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr10:97577815-97579311	GM12892	blood:	n/a	n/a
29	JUN	chr10:97578310-97578869	HUVEC	blood vessel:	n/a	chr10:97578702-97578711
30	NFIC	chr10:97578342-97578942	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr10:97574871-97578865	GM12891	blood:	n/a	n/a
32	RUNX3	chr10:97578398-97578921	GM12878	blood:	n/a	n/a
33	FOXA1	chr10:97578361-97578841	HepG2	liver:	n/a	n/a
34	IKZF1	chr10:97578499-97578844	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:97574823-97579264	GM12878	blood:	n/a	n/a
36	FOS	chr10:97578435-97578903	HUVEC	blood vessel:	n/a	chr10:97578702-97578711
37	ZNF384	chr10:97578700-97578851	GM12878	blood:	n/a	n/a
38	TEAD4	chr10:97578314-97578835	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr10:97577593-97578881	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97572611..97574483-chr10:97578100..97579949,2	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10159941	1.00[CHB][hapmap]
rs10509687	0.91[CHB][hapmap]
rs10736093	0.94[JPT][hapmap]
rs10748634	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10748635	1.00[CHB][hapmap]
rs10748637	1.00[CHB][hapmap]
rs10748638	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs10748642	0.94[JPT][hapmap]
rs10748643	0.94[JPT][hapmap]
rs10748648	0.84[JPT][hapmap]
rs10748649	0.85[ASN][1000 genomes]
rs10786228	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10786230	1.00[CHB][hapmap]
rs10786233	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10786235	1.00[CHB][hapmap]
rs10786236	0.89[JPT][hapmap]
rs10786244	0.82[CHB][hapmap]
rs10882646	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10882647	0.81[JPT][hapmap]
rs10882651	0.88[JPT][hapmap]
rs10882652	0.88[JPT][hapmap]
rs10882653	1.00[CHB][hapmap]
rs10882656	0.90[JPT][hapmap]
rs10882657	0.90[JPT][hapmap]
rs10882660	0.89[JPT][hapmap]
rs10882664	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882665	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882668	0.81[ASN][1000 genomes]
rs10882670	1.00[CHB][hapmap]
rs10882673	0.84[JPT][hapmap]
rs10882675	0.88[JPT][hapmap]
rs10882676	0.84[JPT][hapmap]
rs11188414	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11188459	1.00[CHB][hapmap]
rs11188485	1.00[CHB][hapmap]
rs11188486	0.89[JPT][hapmap]
rs11188488	1.00[CHB][hapmap]
rs11188497	0.87[JPT][hapmap]
rs11188513	0.94[JPT][hapmap]
rs11188518	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11188523	0.82[CHB][hapmap]
rs11596004	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs11819376	0.82[CHB][hapmap]
rs12244559	0.85[JPT][hapmap]
rs12262943	1.00[CHB][hapmap]
rs1342790	0.89[JPT][hapmap]
rs1342791	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418709	0.89[JPT][hapmap]
rs1573112	0.94[JPT][hapmap]
rs1933165	0.89[JPT][hapmap]
rs1933166	1.00[CHB][hapmap]
rs1933169	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1953710	1.00[CHB][hapmap]
rs2051052	0.94[JPT][hapmap]
rs2153913	0.89[JPT][hapmap]
rs2153914	0.94[JPT][hapmap]
rs2185818	0.81[JPT][hapmap]
rs2211002	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2225893	0.91[CHB][hapmap]
rs2226163	0.89[JPT][hapmap]
rs2275273	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2275759	0.94[JPT][hapmap]
rs2297788	0.84[JPT][hapmap]
rs2861147	0.89[JPT][hapmap]
rs2861148	0.88[JPT][hapmap]
rs2861149	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2901873	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2986401	0.83[JPT][hapmap]
rs3176881	0.89[JPT][hapmap]
rs3176883	1.00[CHB][hapmap]
rs3176885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3176891	0.89[JPT][hapmap]
rs3181123	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3181124	0.94[JPT][hapmap]
rs3181129	0.84[JPT][hapmap]
rs3181131	0.94[JPT][hapmap]
rs3750700	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs3750701	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs3793748	0.91[CHB][hapmap]
rs3814159	0.94[JPT][hapmap]
rs3929900	0.89[JPT][hapmap]
rs3934409	0.94[JPT][hapmap]
rs3949478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4074424	0.89[JPT][hapmap]
rs4075310	0.89[JPT][hapmap]
rs4290159	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs4290160	0.81[CHB][hapmap]
rs4396219	0.94[JPT][hapmap]
rs4431963	0.94[JPT][hapmap]
rs4457685	1.00[CHB][hapmap]
rs4501930	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4551688	0.94[JPT][hapmap]
rs4582902	0.94[JPT][hapmap]
rs4614366	0.85[JPT][hapmap]
rs4918950	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4918962	0.89[JPT][hapmap]
rs4918964	1.00[CHB][hapmap]
rs5014871	0.89[JPT][hapmap]
rs501819	0.83[JPT][hapmap]
rs57126367	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6584022	0.89[JPT][hapmap]
rs6584023	0.90[JPT][hapmap]
rs6584026	1.00[CHB][hapmap]
rs6584027	0.94[JPT][hapmap]
rs6584028	1.00[CHB][hapmap]
rs6584033	1.00[CHB][hapmap]
rs7067762	0.89[JPT][hapmap]
rs7069234	1.00[CHB][hapmap]
rs7071836	0.94[JPT][hapmap]
rs7072572	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7073723	1.00[CHB][hapmap]
rs7074403	0.94[JPT][hapmap]
rs7077566	0.90[JPT][hapmap]
rs7081414	1.00[CHB][hapmap]
rs7086986	0.90[JPT][hapmap]
rs7088584	0.94[JPT][hapmap]
rs7094855	0.81[AFR][1000 genomes]
rs7095587	0.90[JPT][hapmap]
rs7096317	0.83[JPT][hapmap]
rs7098750	1.00[CHB][hapmap]
rs7893677	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7894648	0.88[JPT][hapmap]
rs7905653	1.00[CHB][hapmap]
rs7905861	0.81[CHB][hapmap]
rs7909569	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7915345	1.00[CHB][hapmap]
rs7919196	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7920801	0.82[JPT][hapmap]
rs7920850	1.00[CHB][hapmap]
rs945958	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9663413	0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7902190	ENTPD1	cis	Lymphoblastoid	GTEx
rs7902190	ENTPD1	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97573200-97580000	Enhancers	HUVEC	blood vessel
2	chr10:97573800-97584400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:97574200-97583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:97574400-97580800	Weak transcription	Small Intestine	intestine
5	chr10:97574400-97581000	Weak transcription	Spleen	Spleen
6	chr10:97574400-97581400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:97574800-97590800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:97575000-97580400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:97575400-97579400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:97575400-97579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:97575800-97579600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:97575800-97579800	Weak transcription	Left Ventricle	heart
14	chr10:97575800-97592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:97576000-97579400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:97576800-97580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:97577000-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:97577200-97580000	Enhancers	NHDF-Ad	bronchial
20	chr10:97577200-97587200	Weak transcription	Lung	lung
21	chr10:97577200-97591400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:97577600-97583000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:97577800-97580000	Enhancers	HepG2	liver
24	chr10:97578000-97579200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:97578000-97580600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:97578200-97579200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:97578200-97579200	Weak transcription	Primary B cells from cord blood	blood
28	chr10:97578200-97579600	Enhancers	NH-A	brain
29	chr10:97578200-97579800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr10:97578200-97579800	Enhancers	HMEC	breast
31	chr10:97578200-97579800	Enhancers	NHLF	lung
32	chr10:97578200-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:97578200-97583000	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:97578400-97579000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:97578400-97579200	Enhancers	Osteobl	bone
36	chr10:97578400-97579400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:97578400-97580400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:97578600-97579400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr10:97578600-97579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:97578600-97580000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:97578600-97581000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:97578600-97588800	Weak transcription	Fetal Stomach	stomach
43	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
44	chr10:97578800-97579200	Enhancers	GM12878-XiMat	blood

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