Variant report

Variant	rs2225893
Chromosome Location	chr10:97415741-97415742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97414876..97416556-chr10:97452777..97454283,2	MCF-7	breast:
2	chr10:97375956..97378752-chr10:97415049..97416983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119977	Chromatin interaction
ENSG00000059573	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10159941	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10509687	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10748634	0.92[CHB][hapmap]
rs10748635	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10748636	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10748637	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10748639	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748640	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748641	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786228	0.84[CHB][hapmap]
rs10786230	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786235	1.00[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs10882646	0.92[CHB][hapmap]
rs10882653	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882664	0.85[CHB][hapmap]
rs10882665	0.85[CHB][hapmap]
rs10882670	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1113881	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188414	0.84[CHB][hapmap]
rs11188441	0.81[ASN][1000 genomes]
rs11188459	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11188468	0.95[AMR][1000 genomes]
rs11188470	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188482	0.81[EUR][1000 genomes]
rs11188485	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs11188488	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs11528098	0.81[EUR][1000 genomes]
rs11596004	0.82[CHB][hapmap]
rs12262943	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs1340837	0.86[JPT][hapmap]
rs1342791	0.85[CHB][hapmap]
rs17111041	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1890187	0.87[ASN][1000 genomes]
rs1933166	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1933169	0.84[CHB][hapmap]
rs1933171	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1953710	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2211002	0.92[CHB][hapmap]
rs2225892	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2225894	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275273	0.85[CHB][hapmap]
rs2485643	0.81[AFR][1000 genomes]
rs2901873	0.85[CHB][hapmap]
rs3176883	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs3181123	0.85[CHB][hapmap]
rs3750700	0.85[CHB][hapmap]
rs3750701	0.85[CHB][hapmap]
rs3763705	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763706	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3793748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3938778	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3949478	0.85[CHB][hapmap]
rs4075311	0.93[JPT][hapmap];0.88[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap]
rs4244318	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4290159	0.91[CHB][hapmap]
rs4457685	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4501930	0.94[ASW][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap]
rs473251	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs476373	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs482811	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4917698	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917700	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4917701	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4918950	0.92[CHB][hapmap]
rs4918956	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4918958	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4918964	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs496426	0.92[CHB][hapmap]
rs497331	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs501603	0.93[JPT][hapmap]
rs5023560	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs524084	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs556869	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs571505	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6584014	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6584015	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6584026	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs6584028	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs6584033	1.00[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7069234	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs7073723	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7073936	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7073973	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7079911	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7080114	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7081414	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7085059	0.81[ASN][1000 genomes]
rs7894052	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7902190	0.91[CHB][hapmap]
rs7905653	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7909569	0.92[CHB][hapmap]
rs7915345	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7918235	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs7919773	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7920850	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945958	0.92[CHB][hapmap]
rs951418	0.82[CEU][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2225893	ENTPD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97414400-97415800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:97414600-97415800	Flanking Active TSS	Dnd41	blood
3	chr10:97414600-97416800	Active TSS	Fetal Intestine Large	intestine
4	chr10:97414600-97416800	Active TSS	Fetal Intestine Small	intestine
5	chr10:97414600-97416800	Active TSS	NHDF-Ad	bronchial
6	chr10:97414600-97417200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:97415000-97415800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:97415000-97415800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr10:97415000-97415800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr10:97415000-97415800	Flanking Active TSS	HMEC	breast
11	chr10:97415000-97415800	Flanking Active TSS	HUVEC	blood vessel
12	chr10:97415000-97415800	Flanking Active TSS	K562	blood
13	chr10:97415000-97416000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr10:97415000-97416000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr10:97415000-97416800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr10:97415000-97416800	Active TSS	Colonic Mucosa	Colon
17	chr10:97415000-97416800	Active TSS	A549	lung
18	chr10:97415000-97417000	Active TSS	HSMMtube	muscle
19	chr10:97415000-97417000	Active TSS	NHLF	lung
20	chr10:97415200-97415800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr10:97415200-97415800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr10:97415200-97415800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:97415200-97415800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr10:97415200-97415800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr10:97415200-97415800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr10:97415200-97415800	Flanking Active TSS	Fetal Brain Male	brain
27	chr10:97415200-97415800	Flanking Active TSS	Fetal Brain Female	brain
28	chr10:97415200-97415800	Flanking Active TSS	Fetal Heart	heart
29	chr10:97415200-97415800	Flanking Active TSS	Fetal Lung	lung
30	chr10:97415200-97415800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr10:97415200-97416000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr10:97415200-97416000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr10:97415200-97416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:97415200-97416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:97415200-97416000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:97415200-97416000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr10:97415200-97416000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr10:97415200-97416000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:97415200-97416000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:97415200-97416000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr10:97415200-97416200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr10:97415200-97416200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:97415200-97416400	Bivalent/Poised TSS	HepG2	liver
44	chr10:97415200-97416800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:97415200-97416800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:97415200-97416800	Active TSS	Lung	lung
47	chr10:97415200-97416800	Active TSS	Stomach Mucosa	stomach
48	chr10:97415200-97417000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:97415200-97417000	Active TSS	Aorta	Aorta
50	chr10:97415200-97417000	Active TSS	Pancreas	Pancrea

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