Variant report

Variant	rs7895056
Chromosome Location	chr10:97661682-97661683
allele	C/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:
2	chr10:97657927..97659721-chr10:97661634..97663587,3	K562	blood:

Variant related genes	Relation type
ENSG00000173088	Chromatin interaction
ENSG00000226688	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10509686	0.82[CHB][hapmap]
rs10509695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10786247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10882654	0.85[CHB][hapmap]
rs10882671	0.82[CHB][hapmap]
rs10882698	1.00[CHB][hapmap]
rs10882718	1.00[JPT][hapmap]
rs11188444	0.82[CHB][hapmap];0.82[YRI][hapmap]
rs11188455	0.82[CHB][hapmap]
rs11188504	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11188530	0.85[CHB][hapmap]
rs11188531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11188575	1.00[JPT][hapmap]
rs11188596	1.00[JPT][hapmap]
rs11598475	0.83[YRI][hapmap]
rs12354848	0.82[CHB][hapmap]
rs12358481	0.82[CHB][hapmap]
rs12359343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12411569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12415750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17382898	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17462179	0.82[CHB][hapmap]
rs17553401	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1891536	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1935815	0.82[CHB][hapmap]
rs2861151	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2861153	0.82[CHB][hapmap]
rs3176895	0.82[CHB][hapmap]
rs3181122	0.82[CHB][hapmap]
rs3961944	1.00[JPT][hapmap]
rs4325250	0.82[CHB][hapmap]
rs4344425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4512761	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4918966	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4918976	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56365500	0.90[ASN][1000 genomes]
rs61871074	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7089668	0.82[CHB][hapmap];1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7895056	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs7895056	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs7895056	ENTPD1	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 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	chr10:97632200-97667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:97633400-97666600	Weak transcription	Brain Angular Gyrus	brain
11	chr10:97633800-97666600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:97633800-97666600	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:97634000-97663200	Weak transcription	Spleen	Spleen
14	chr10:97634400-97666800	Weak transcription	Lung	lung
15	chr10:97634600-97666400	Weak transcription	Brain Germinal Matrix	brain
16	chr10:97634600-97666800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:97634800-97667000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:97635800-97666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:97636400-97662600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:97636400-97666400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:97636800-97666400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:97638600-97666600	Weak transcription	Colonic Mucosa	Colon
23	chr10:97641200-97662800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:97643200-97666600	Weak transcription	Fetal Heart	heart
25	chr10:97646600-97666400	Weak transcription	HSMM	muscle
26	chr10:97648000-97662600	Weak transcription	K562	blood
27	chr10:97648000-97666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:97649400-97662400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:97649400-97666600	Weak transcription	Fetal Intestine Large	intestine
30	chr10:97650000-97666600	Weak transcription	Fetal Intestine Small	intestine
31	chr10:97650200-97662600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:97651800-97666400	Weak transcription	A549	lung
33	chr10:97652200-97666400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:97652800-97662400	Weak transcription	Brain Substantia Nigra	brain
35	chr10:97652800-97662400	Weak transcription	Dnd41	blood
36	chr10:97653800-97666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:97654000-97664800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:97654000-97665000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:97654400-97664800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:97654400-97665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:97654600-97663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:97655000-97664400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:97655200-97666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:97655800-97666600	Weak transcription	HSMMtube	muscle
45	chr10:97656000-97661800	Weak transcription	Placenta	Placenta
46	chr10:97656200-97662600	Weak transcription	NH-A	brain
47	chr10:97656400-97662400	Weak transcription	HepG2	liver
48	chr10:97656400-97665000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:97656400-97666400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr10:97656400-97666800	Weak transcription	Psoas Muscle	Psoas

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