Variant report

Variant	rs11188419
Chromosome Location	chr10:97421921-97421922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97415761..97418551-chr10:97421893..97424781,3	K562	blood:
2	chr10:97403502..97406467-chr10:97420459..97422699,2	K562	blood:
3	chr10:97420551..97423519-chr10:97425006..97428987,4	MCF-7	breast:
4	chr10:97415703..97418525-chr10:97420454..97423040,3	MCF-7	breast:
5	chr10:97417025..97421162-chr10:97421538..97425770,6	K562	blood:

Variant related genes	Relation type
ENSG00000059573	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11188367	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11188382	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188383	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188388	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188391	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11188405	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188413	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188423	0.88[JPT][hapmap]
rs11188424	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11188431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188433	0.88[JPT][hapmap]
rs11188448	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188450	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188451	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188461	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188467	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11188479	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188481	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188491	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188502	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11188508	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11553577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12354465	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12357211	0.92[EUR][1000 genomes]
rs12357513	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12358517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12784530	0.88[JPT][hapmap]
rs2275760	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2282305	0.88[JPT][hapmap]
rs3181121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs3818833	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41291576	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4420188	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56747025	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58059905	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58169787	0.83[EUR][1000 genomes]
rs60144080	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61587319	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61731067	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61736814	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7070507	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7073937	1.00[JPT][hapmap]
rs7090630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7093453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7100644	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73315224	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73329287	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73331134	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73333021	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7893577	1.00[CHB][hapmap]

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
rs11188419	ENTPD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97416600-97441000	Weak transcription	Spleen	Spleen
2	chr10:97416800-97423000	Weak transcription	Lung	lung
3	chr10:97416800-97423000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:97416800-97441600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:97416800-97442400	Weak transcription	Small Intestine	intestine
6	chr10:97416800-97443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:97417000-97422000	Weak transcription	Fetal Stomach	stomach
8	chr10:97417000-97422200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:97417000-97422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:97417000-97422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:97417000-97422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:97417000-97422800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:97417000-97422800	Weak transcription	Fetal Brain Female	brain
14	chr10:97417000-97422800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:97417000-97423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:97417000-97423000	Weak transcription	Primary T cells from cord blood	blood
17	chr10:97417000-97423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:97417000-97423000	Weak transcription	Pancreas	Pancrea
19	chr10:97417000-97423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:97417000-97423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:97417000-97423200	Weak transcription	Left Ventricle	heart
22	chr10:97417000-97423400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:97417000-97423400	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:97417000-97423800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:97417000-97424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:97417000-97428600	Weak transcription	Fetal Kidney	kidney
27	chr10:97417000-97434800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:97417000-97434800	Weak transcription	Ovary	ovary
29	chr10:97417000-97434800	Weak transcription	HUVEC	blood vessel
30	chr10:97417000-97436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:97417000-97436400	Weak transcription	HMEC	breast
32	chr10:97417000-97437400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:97417000-97439800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:97417000-97439800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:97417000-97439800	Weak transcription	Brain Substantia Nigra	brain
36	chr10:97417000-97441000	Weak transcription	HSMMtube	muscle
37	chr10:97417000-97442400	Weak transcription	Aorta	Aorta
38	chr10:97417000-97444200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:97417000-97445200	Weak transcription	Colonic Mucosa	Colon
40	chr10:97417000-97445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:97417000-97445800	Weak transcription	NHLF	lung
42	chr10:97417200-97422400	Weak transcription	Adipose Nuclei	Adipose
43	chr10:97417200-97422800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr10:97417200-97422800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:97417200-97422800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr10:97417200-97422800	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:97417200-97423000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:97417200-97423000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:97417200-97423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:97417200-97423000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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