Variant report

Variant	rs11188516
Chromosome Location	chr10:97649445-97649446
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	chr10:97647865..97649455-chr10:97650804..97652890,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10509686	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882661	0.91[ASN][1000 genomes]
rs10882671	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188444	0.92[CEU][hapmap];0.83[ASN][1000 genomes]
rs11188455	0.89[CEU][hapmap];0.83[ASN][1000 genomes]
rs11188464	0.83[ASN][1000 genomes]
rs11188480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188484	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11188489	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188501	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11188504	0.88[CEU][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188506	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188509	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593044	0.84[ASN][1000 genomes]
rs11593761	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597321	0.91[ASN][1000 genomes]
rs11598475	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354848	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358481	0.88[CEU][hapmap];0.83[ASN][1000 genomes]
rs12359343	0.80[AFR][1000 genomes]
rs12359366	0.83[ASN][1000 genomes]
rs12360382	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17462179	0.89[CEU][hapmap];0.83[ASN][1000 genomes]
rs17553401	0.88[CEU][hapmap];0.83[ASN][1000 genomes]
rs1891535	0.83[ASN][1000 genomes]
rs1891536	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935814	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935815	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861151	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861153	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861154	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176884	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176895	0.89[CEU][hapmap];0.91[ASN][1000 genomes]
rs3181122	0.89[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192654	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320886	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4402217	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463786	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512761	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568937	0.83[ASN][1000 genomes]
rs4918966	0.88[CEU][hapmap];0.91[ASN][1000 genomes]
rs4918970	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918972	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801606	0.83[ASN][1000 genomes]
rs61869573	0.83[ASN][1000 genomes]
rs61869591	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074866	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7089668	0.88[CEU][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896876	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918339	0.83[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
rs11188516	ENTPD1	cis	multi-tissue	Pritchard
rs11188516	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs11188516	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97602400-97655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:97619600-97655000	Weak transcription	HUVEC	blood vessel
3	chr10:97621000-97666800	Weak transcription	Gastric	stomach
4	chr10:97622800-97666600	Weak transcription	Thymus	Thymus
5	chr10:97623800-97666600	Weak transcription	Right Ventricle	heart
6	chr10:97625200-97655200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:97625400-97666400	Weak transcription	Osteobl	bone
8	chr10:97626400-97666400	Weak transcription	Pancreas	Pancrea
9	chr10:97626800-97654200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:97628000-97666800	Weak transcription	Esophagus	oesophagus
11	chr10:97628200-97655600	Weak transcription	Brain Anterior Caudate	brain
12	chr10:97628400-97657600	Weak transcription	Hela-S3	cervix
13	chr10:97629200-97655200	Weak transcription	NH-A	brain
14	chr10:97629200-97663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:97631200-97663000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:97632200-97660400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:97632200-97667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:97633200-97655600	Weak transcription	Psoas Muscle	Psoas
19	chr10:97633200-97655800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr10:97633400-97655200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:97633400-97655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:97633400-97656000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:97633400-97659800	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:97633400-97666600	Weak transcription	Brain Angular Gyrus	brain
25	chr10:97633600-97649800	Weak transcription	Adipose Nuclei	Adipose
26	chr10:97633800-97649800	Weak transcription	Left Ventricle	heart
27	chr10:97633800-97666600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:97633800-97666600	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:97634000-97663200	Weak transcription	Spleen	Spleen
30	chr10:97634400-97655200	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:97634400-97655200	Weak transcription	Placenta	Placenta
32	chr10:97634400-97655600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr10:97634400-97659800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:97634400-97666800	Weak transcription	Lung	lung
35	chr10:97634600-97655400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:97634600-97666400	Weak transcription	Brain Germinal Matrix	brain
37	chr10:97634600-97666800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:97634800-97654200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:97634800-97667000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:97635200-97655200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:97635600-97655200	Weak transcription	Fetal Thymus	thymus
42	chr10:97635800-97666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:97636200-97652600	Weak transcription	HMEC	breast
44	chr10:97636200-97655000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:97636200-97655600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:97636400-97649800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr10:97636400-97654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:97636400-97655200	Weak transcription	Liver	Liver
49	chr10:97636400-97655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:97636400-97656000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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