Variant report

Variant	rs7922217
Chromosome Location	chr10:97657705-97657706
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	chr10:97657059..97661839-chr10:97664974..97668888,4	K562	blood:

Variant related genes	Relation type
ENSG00000173088	Chromatin interaction
ENSG00000226688	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10786240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786242	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786245	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786250	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10882684	0.87[AFR][1000 genomes]
rs10882686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882690	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11188497	0.81[JPT][hapmap]
rs11188517	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11188518	0.88[JPT][hapmap]
rs1137629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12244559	0.83[CHB][hapmap]
rs2027200	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs3181129	0.82[CHB][hapmap]
rs4254003	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4303172	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4415682	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4614366	0.82[CHB][hapmap]
rs7101331	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7904410	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7906654	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7908420	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7908691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7922992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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
rs7922217	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs7922217	ENTPD1	cis	multi-tissue	Pritchard
rs7922217	ENTPD1	cis	Lymphoblastoid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97621000-97666800	Weak transcription	Gastric	stomach
2	chr10:97622800-97666600	Weak transcription	Thymus	Thymus
3	chr10:97623800-97666600	Weak transcription	Right Ventricle	heart
4	chr10:97625400-97666400	Weak transcription	Osteobl	bone
5	chr10:97626400-97666400	Weak transcription	Pancreas	Pancrea
6	chr10:97628000-97666800	Weak transcription	Esophagus	oesophagus
7	chr10:97629200-97663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:97631200-97663000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:97632200-97660400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:97632200-97667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:97633400-97659800	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:97633400-97666600	Weak transcription	Brain Angular Gyrus	brain
13	chr10:97633800-97666600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:97633800-97666600	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:97634000-97663200	Weak transcription	Spleen	Spleen
16	chr10:97634400-97659800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:97634400-97666800	Weak transcription	Lung	lung
18	chr10:97634600-97666400	Weak transcription	Brain Germinal Matrix	brain
19	chr10:97634600-97666800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:97634800-97667000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:97635800-97666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:97636400-97662600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:97636400-97666400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:97636800-97666400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:97638600-97666600	Weak transcription	Colonic Mucosa	Colon
26	chr10:97641200-97662800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:97643200-97666600	Weak transcription	Fetal Heart	heart
28	chr10:97644600-97661400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:97646600-97666400	Weak transcription	HSMM	muscle
30	chr10:97648000-97662600	Weak transcription	K562	blood
31	chr10:97648000-97666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:97648200-97657800	Weak transcription	NHDF-Ad	bronchial
33	chr10:97648600-97659800	Weak transcription	NHEK	skin
34	chr10:97649400-97662400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:97649400-97666600	Weak transcription	Fetal Intestine Large	intestine
36	chr10:97650000-97666600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:97650200-97662600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:97651400-97659200	Weak transcription	Left Ventricle	heart
39	chr10:97651800-97666400	Weak transcription	A549	lung
40	chr10:97652200-97666400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:97652800-97662400	Weak transcription	Brain Substantia Nigra	brain
42	chr10:97652800-97662400	Weak transcription	Dnd41	blood
43	chr10:97653800-97666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:97654000-97664800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:97654000-97665000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:97654200-97658200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:97654200-97658400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:97654200-97660600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:97654400-97664800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:97654400-97665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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