Variant report

Variant	rs11188411
Chromosome Location	chr10:97397344-97397345
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	chr10:97396628..97399173-chr10:97403561..97405161,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10509686	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs1053905	0.85[CHB][hapmap]
rs10786227	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10882638	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs10882640	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs10882641	0.85[CHB][hapmap]
rs10882643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882649	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882650	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882654	0.85[CHB][hapmap]
rs10882671	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11188393	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188394	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188396	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188397	0.85[CHB][hapmap]
rs11188398	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];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188399	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11188400	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188404	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188437	0.82[EUR][1000 genomes]
rs11188444	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11188455	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11188464	0.81[AMR][1000 genomes]
rs11188484	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs11591779	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354848	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs12357173	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12358481	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs12359272	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12359366	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1270505	0.88[MEX][hapmap]
rs12778814	0.85[CHB][hapmap]
rs1340837	0.81[CEU][hapmap]
rs1409709	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs17461546	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17462179	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs17553401	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs1891536	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs2004611	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017218	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296689	0.85[CHB][hapmap]
rs2296691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296692	0.85[CHB][hapmap]
rs2861151	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs3176895	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs3763707	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4037	1.00[ASW][hapmap];0.96[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];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917697	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918951	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918955	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918966	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs526928	0.88[MEX][hapmap]
rs55801606	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56322409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347444	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869573	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61871790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61871792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871793	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871796	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6946	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7072953	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7073010	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7086071	0.84[MEX][hapmap]
rs749050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917792	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918947	0.84[MEX][hapmap]
rs8758	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943342	0.85[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11188411	ENTPD1	cis	multi-tissue	Pritchard
rs11188411	NOC3L	cis	cerebellum	SCAN
rs11188411	ENTPD1	cis	lymphoblastoid	seeQTL
rs11188411	FRAT2	cis	cerebellum	SCAN
rs11188411	ALDH18A1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
2	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:97376200-97400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
10	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:97378600-97414200	Weak transcription	Fetal Heart	heart
13	chr10:97379800-97403200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:97380200-97399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:97380200-97403200	Strong transcription	Fetal Muscle Leg	muscle
16	chr10:97380200-97403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:97380200-97408800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:97380600-97403000	Strong transcription	NH-A	brain
19	chr10:97380600-97403200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:97380600-97403200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:97380600-97408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:97380800-97409000	Strong transcription	Osteobl	bone
23	chr10:97381200-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:97381600-97403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:97383000-97411200	Strong transcription	Placenta	Placenta
26	chr10:97383200-97403000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr10:97383400-97398800	Strong transcription	Dnd41	blood
28	chr10:97383400-97400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:97383400-97403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:97383800-97403000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:97383800-97403000	Strong transcription	Fetal Brain Female	brain
32	chr10:97383800-97403200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:97383800-97403200	Strong transcription	GM12878-XiMat	blood
34	chr10:97383800-97409400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:97383800-97410200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:97384000-97397400	Strong transcription	Adipose Nuclei	Adipose
37	chr10:97384000-97402800	Strong transcription	HSMM	muscle
38	chr10:97384000-97403000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:97384000-97403200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr10:97384000-97403200	Strong transcription	Liver	Liver
41	chr10:97384200-97403000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr10:97384400-97402800	Strong transcription	HUVEC	blood vessel
43	chr10:97384600-97402600	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr10:97385800-97408600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr10:97386600-97397600	Strong transcription	Primary B cells from cord blood	blood
46	chr10:97386600-97399200	Strong transcription	Fetal Lung	lung
47	chr10:97386600-97411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:97388000-97400600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:97388800-97400400	Weak transcription	Right Ventricle	heart
50	chr10:97388800-97411000	Weak transcription	Fetal Brain Male	brain

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