Variant report

Variant	rs11188394
Chromosome Location	chr10:97365458-97365459
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	chr10:97129620..97132009-chr10:97364748..97367399,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1053905	0.85[CHB][hapmap]
rs10786227	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10882638	0.85[CHB][hapmap]
rs10882640	0.85[CHB][hapmap]
rs10882641	0.85[CHB][hapmap]
rs10882643	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882644	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882649	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882650	0.83[ASN][1000 genomes]
rs10882654	0.85[CHB][hapmap]
rs11188393	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188396	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188397	0.85[CHB][hapmap]
rs11188398	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188399	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11188400	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188404	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188406	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188437	0.84[AMR][1000 genomes]
rs11188444	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11188455	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs11188484	0.93[CEU][hapmap]
rs11591779	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357173	0.93[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs12358481	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs12359272	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12778814	0.85[CHB][hapmap]
rs1409709	0.85[CHB][hapmap]
rs17461546	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17462179	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs17553401	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs2004611	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017218	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152916	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296689	0.85[CHB][hapmap]
rs2296691	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296692	0.85[CHB][hapmap]
rs2861151	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs3176895	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs3763707	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417206	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917697	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918955	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918966	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs56322409	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347444	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871790	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61871792	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871793	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871796	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6946	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7073010	0.83[ASN][1000 genomes]
rs749050	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917792	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8758	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943342	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11188394	ENTPD1	cis	multi-tissue	Pritchard
rs11188394	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs11188394	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97335200-97373400	Weak transcription	Psoas Muscle	Psoas
2	chr10:97360800-97366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:97361000-97366000	Weak transcription	Hela-S3	cervix
4	chr10:97361000-97366400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:97361000-97366800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
7	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:97361400-97365800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:97361400-97366600	Weak transcription	K562	blood
11	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
13	chr10:97363000-97365600	Weak transcription	A549	lung
14	chr10:97363000-97366000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr10:97363000-97366800	Weak transcription	HSMM	muscle
16	chr10:97363200-97365600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr10:97363200-97366400	Weak transcription	HUVEC	blood vessel
18	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:97363400-97366600	Weak transcription	Colonic Mucosa	Colon
20	chr10:97363400-97370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:97363400-97370400	Strong transcription	Fetal Intestine Small	intestine
22	chr10:97363600-97369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:97363800-97367600	Enhancers	Colon Smooth Muscle	Colon
24	chr10:97363800-97368400	Weak transcription	Brain Substantia Nigra	brain
25	chr10:97363800-97369200	Weak transcription	HMEC	breast
26	chr10:97363800-97369800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr10:97364000-97365600	Enhancers	Aorta	Aorta
28	chr10:97364000-97365600	Enhancers	Left Ventricle	heart
29	chr10:97364000-97365600	Enhancers	Right Atrium	heart
30	chr10:97364000-97365800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:97364000-97366600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:97364000-97367400	Enhancers	Rectal Smooth Muscle	rectum
33	chr10:97364000-97370200	Strong transcription	Small Intestine	intestine
34	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
36	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:97364200-97366000	Enhancers	Fetal Heart	heart
38	chr10:97364200-97367000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:97364200-97372000	Strong transcription	Fetal Intestine Large	intestine
40	chr10:97364400-97365600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:97364400-97365800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:97364400-97366600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:97364400-97367200	Genic enhancers	Fetal Stomach	stomach
44	chr10:97364400-97370000	Weak transcription	Fetal Brain Male	brain
45	chr10:97364400-97373200	Strong transcription	Liver	Liver
46	chr10:97364400-97378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:97364400-97378600	Strong transcription	Fetal Brain Female	brain
48	chr10:97364400-97378600	Strong transcription	Spleen	Spleen
49	chr10:97364400-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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