Variant report

Variant	rs507017
Chromosome Location	chr10:97380662-97380663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10786229	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10882645	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882647	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882651	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10882652	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11188416	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12244124	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12244559	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12251664	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12267876	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1268608	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933167	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2297788	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2986401	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793749	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499714	0.81[ASN][1000 genomes]
rs501819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543672	0.86[ASN][1000 genomes]
rs6584013	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7069943	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7075081	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7079312	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7097074	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7894648	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7895976	0.82[AFR][1000 genomes]
rs7920801	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9663413	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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
rs507017	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
3	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:97365200-97382200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:97365600-97380800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:97365800-97385000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:97367400-97388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:97367600-97388400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:97368400-97393000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:97369600-97382200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr10:97373800-97386600	Weak transcription	Fetal Brain Male	brain
18	chr10:97374000-97380800	Weak transcription	Stomach Mucosa	stomach
19	chr10:97374000-97386400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:97374400-97386600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr10:97375400-97387000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:97376200-97384400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:97376200-97400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
25	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:97376600-97384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:97376600-97385800	Weak transcription	Fetal Kidney	kidney
28	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:97377400-97383400	Weak transcription	Small Intestine	intestine
30	chr10:97377800-97380800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:97377800-97384600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr10:97378000-97380800	Weak transcription	Esophagus	oesophagus
33	chr10:97378000-97384000	Weak transcription	Colonic Mucosa	Colon
34	chr10:97378000-97384600	Weak transcription	Right Ventricle	heart
35	chr10:97378200-97380800	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:97378200-97385200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:97378200-97386400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:97378200-97387200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr10:97378200-97391800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:97378400-97380800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:97378600-97380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:97378600-97380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:97378600-97380800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:97378600-97380800	Weak transcription	Fetal Brain Female	brain
45	chr10:97378600-97380800	Weak transcription	Gastric	stomach
46	chr10:97378600-97380800	Weak transcription	Lung	lung
47	chr10:97378600-97380800	Weak transcription	Ovary	ovary
48	chr10:97378600-97380800	Weak transcription	Pancreas	Pancrea
49	chr10:97378600-97380800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:97378600-97380800	Weak transcription	Thymus	Thymus

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