Variant report

Variant	rs2211002
Chromosome Location	chr10:97415907-97415908
allele	C/T
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
ENSG00000059573	Chromatin interaction
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10159941	0.84[CHB][hapmap]
rs10509687	0.92[CHB][hapmap]
rs10736093	0.94[JPT][hapmap]
rs10748634	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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];0.94[ASN][1000 genomes]
rs10748635	0.82[CHB][hapmap]
rs10748637	0.84[CHB][hapmap]
rs10748638	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10748642	0.94[JPT][hapmap]
rs10748643	0.94[JPT][hapmap]
rs10748648	0.88[JPT][hapmap]
rs10786228	0.92[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap]
rs10786230	0.84[CHB][hapmap]
rs10786233	0.81[EUR][1000 genomes]
rs10786235	0.84[CHB][hapmap]
rs10786236	0.94[JPT][hapmap]
rs10882646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882647	0.85[JPT][hapmap]
rs10882651	0.90[JPT][hapmap]
rs10882652	0.90[JPT][hapmap]
rs10882653	0.84[CHB][hapmap]
rs10882656	0.94[JPT][hapmap]
rs10882657	0.94[JPT][hapmap]
rs10882660	0.94[JPT][hapmap]
rs10882664	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10882665	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10882670	0.84[CHB][hapmap]
rs10882673	0.83[JPT][hapmap]
rs10882675	0.89[JPT][hapmap]
rs10882676	0.83[JPT][hapmap]
rs11188414	0.92[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap]
rs11188459	0.84[CHB][hapmap]
rs11188485	0.84[CHB][hapmap]
rs11188486	0.94[JPT][hapmap]
rs11188488	0.84[CHB][hapmap]
rs11188497	0.93[JPT][hapmap]
rs11596004	0.81[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11596976	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12244124	0.85[JPT][hapmap]
rs12244559	0.90[JPT][hapmap]
rs12262943	0.84[CHB][hapmap]
rs1342790	0.94[JPT][hapmap]
rs1342791	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1418709	0.94[JPT][hapmap]
rs1573112	0.94[JPT][hapmap]
rs17111041	0.92[CHB][hapmap]
rs1890186	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1933165	0.94[JPT][hapmap]
rs1933166	0.84[CHB][hapmap]
rs1933169	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1953710	0.84[CHB][hapmap]
rs2153913	0.94[JPT][hapmap]
rs2185818	0.83[JPT][hapmap]
rs2225893	0.92[CHB][hapmap]
rs2275273	0.92[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs2297788	0.90[JPT][hapmap]
rs2485643	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2861147	0.94[JPT][hapmap]
rs2861148	0.94[JPT][hapmap]
rs2861149	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2901873	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs2986401	0.85[JPT][hapmap]
rs3176883	0.84[CHB][hapmap]
rs3176891	0.94[JPT][hapmap]
rs3181123	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3181124	0.94[JPT][hapmap]
rs3181129	0.89[JPT][hapmap]
rs3181131	0.94[JPT][hapmap]
rs3750700	0.92[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs3750701	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs3793748	0.92[CHB][hapmap]
rs3793749	0.85[JPT][hapmap]
rs3814159	0.94[JPT][hapmap]
rs3929900	0.94[JPT][hapmap]
rs3934409	0.94[JPT][hapmap]
rs3949478	0.89[ASW][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4074424	0.94[JPT][hapmap]
rs4075310	0.94[JPT][hapmap]
rs4244319	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4290159	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4396219	0.94[JPT][hapmap]
rs4431963	0.94[JPT][hapmap]
rs4457685	0.84[CHB][hapmap]
rs4501930	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4551688	0.94[JPT][hapmap]
rs4582902	0.94[JPT][hapmap]
rs4614366	0.90[JPT][hapmap]
rs479505	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4918950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4918962	0.94[JPT][hapmap]
rs4918964	0.92[CHB][hapmap]
rs496426	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs496641	0.82[EUR][1000 genomes]
rs497331	0.92[CHB][hapmap]
rs5014871	0.94[JPT][hapmap]
rs501819	0.85[JPT][hapmap]
rs535449	0.85[JPT][hapmap]
rs540963	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57126367	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs571505	0.92[CHB][hapmap]
rs6584022	0.94[JPT][hapmap]
rs6584023	0.94[JPT][hapmap]
rs6584026	0.84[CHB][hapmap]
rs6584027	0.94[JPT][hapmap]
rs6584028	0.84[CHB][hapmap]
rs6584033	0.84[CHB][hapmap]
rs7067762	0.94[JPT][hapmap]
rs7069234	0.84[CHB][hapmap]
rs7071836	0.94[JPT][hapmap]
rs7072572	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7073723	0.84[CHB][hapmap]
rs7074403	0.94[JPT][hapmap]
rs7081414	0.84[CHB][hapmap]
rs7086986	0.94[JPT][hapmap]
rs7088584	0.94[JPT][hapmap]
rs7092594	0.80[ASN][1000 genomes]
rs7094855	0.81[ASN][1000 genomes]
rs7095587	0.94[JPT][hapmap]
rs7096317	0.89[JPT][hapmap]
rs7893677	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7894648	0.90[JPT][hapmap]
rs7902190	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7905653	0.84[CHB][hapmap]
rs7909569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7915345	0.84[CHB][hapmap]
rs7918235	0.84[CHB][hapmap]
rs7919196	0.81[EUR][1000 genomes]
rs7920801	0.87[JPT][hapmap]
rs7920850	0.84[CHB][hapmap]
rs945958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9663413	0.85[JPT][hapmap]
rs9787589	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[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
rs2211002	ENTPD1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97414600-97416800	Active TSS	Fetal Intestine Large	intestine
2	chr10:97414600-97416800	Active TSS	Fetal Intestine Small	intestine
3	chr10:97414600-97416800	Active TSS	NHDF-Ad	bronchial
4	chr10:97414600-97417200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:97415000-97416000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr10:97415000-97416000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr10:97415000-97416800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr10:97415000-97416800	Active TSS	Colonic Mucosa	Colon
9	chr10:97415000-97416800	Active TSS	A549	lung
10	chr10:97415000-97417000	Active TSS	HSMMtube	muscle
11	chr10:97415000-97417000	Active TSS	NHLF	lung
12	chr10:97415200-97416000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr10:97415200-97416000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr10:97415200-97416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:97415200-97416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:97415200-97416000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:97415200-97416000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr10:97415200-97416000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr10:97415200-97416000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:97415200-97416000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:97415200-97416000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr10:97415200-97416200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr10:97415200-97416200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:97415200-97416400	Bivalent/Poised TSS	HepG2	liver
25	chr10:97415200-97416800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:97415200-97416800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:97415200-97416800	Active TSS	Lung	lung
28	chr10:97415200-97416800	Active TSS	Stomach Mucosa	stomach
29	chr10:97415200-97417000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:97415200-97417000	Active TSS	Aorta	Aorta
31	chr10:97415200-97417000	Active TSS	Pancreas	Pancrea
32	chr10:97415200-97417000	Active TSS	Right Atrium	heart
33	chr10:97415200-97417200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr10:97415200-97417200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr10:97415200-97417200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr10:97415200-97417200	Active TSS	Rectal Smooth Muscle	rectum
37	chr10:97415400-97416000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr10:97415400-97416000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr10:97415400-97416000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr10:97415400-97416000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr10:97415400-97416000	Flanking Active TSS	Liver	Liver
42	chr10:97415400-97416000	Flanking Active TSS	Placenta	Placenta
43	chr10:97415400-97416000	Flanking Active TSS	Ovary	ovary
44	chr10:97415400-97416600	Active TSS	Fetal Stomach	stomach
45	chr10:97415400-97416600	Active TSS	GM12878-XiMat	blood
46	chr10:97415400-97416800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:97415400-97416800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr10:97415400-97416800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr10:97415400-97417000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:97415400-97417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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