Variant report

Variant	rs12244124
Chromosome Location	chr10:97399856-97399857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10736093	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10748634	0.85[JPT][hapmap]
rs10748638	0.90[JPT][hapmap]
rs10748642	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10748643	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10748648	0.85[JPT][hapmap]
rs10786228	0.84[JPT][hapmap]
rs10786229	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10786236	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10882645	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882646	0.81[JPT][hapmap]
rs10882647	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882651	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882652	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882656	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10882657	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10882660	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10882664	0.85[JPT][hapmap]
rs10882665	0.85[JPT][hapmap]
rs10882673	0.81[JPT][hapmap]
rs10882675	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10882676	0.81[JPT][hapmap]
rs11188414	0.86[JPT][hapmap]
rs11188416	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11188486	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11188497	0.88[JPT][hapmap]
rs12244559	0.91[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12251664	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12267876	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1268608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418709	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1573112	0.90[JPT][hapmap]
rs1933165	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1933167	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2153913	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2185818	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2211002	0.85[JPT][hapmap]
rs2275273	0.90[JPT][hapmap]
rs2297788	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2861147	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2861148	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2861149	0.81[JPT][hapmap]
rs2901873	0.85[JPT][hapmap]
rs2986401	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3176891	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs3750700	0.90[JPT][hapmap]
rs3750701	0.90[JPT][hapmap]
rs3793749	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];0.98[ASN][1000 genomes]
rs3814159	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs3929900	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs3934409	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs3949478	0.85[JPT][hapmap]
rs4074424	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs4075310	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4396219	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4431963	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4551688	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4582902	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4614366	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4918950	0.81[JPT][hapmap]
rs4918962	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs496426	0.90[JPT][hapmap]
rs5014871	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs501819	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507017	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs535449	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs543672	0.85[ASN][1000 genomes]
rs6584013	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6584022	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs6584023	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6584027	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7069943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071836	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7075081	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7079312	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7086986	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7095587	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7096317	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7097074	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7894648	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7895976	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs7909569	0.81[JPT][hapmap]
rs7920801	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs945958	0.81[JPT][hapmap]
rs9663413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12244124	ENTPD1	cis	Lymphoblastoid	GTEx
rs12244124	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs12244124	ENTPD1	cis	multi-tissue	Pritchard

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	chr10:97380200-97403200	Strong transcription	Fetal Muscle Leg	muscle
15	chr10:97380200-97403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:97380200-97408800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:97380600-97403000	Strong transcription	NH-A	brain
18	chr10:97380600-97403200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:97380600-97403200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:97380600-97408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:97380800-97409000	Strong transcription	Osteobl	bone
22	chr10:97381200-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:97381600-97403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:97383000-97411200	Strong transcription	Placenta	Placenta
25	chr10:97383200-97403000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr10:97383400-97400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:97383400-97403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:97383800-97403000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:97383800-97403000	Strong transcription	Fetal Brain Female	brain
30	chr10:97383800-97403200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:97383800-97403200	Strong transcription	GM12878-XiMat	blood
32	chr10:97383800-97409400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:97383800-97410200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:97384000-97402800	Strong transcription	HSMM	muscle
35	chr10:97384000-97403000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr10:97384000-97403200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr10:97384000-97403200	Strong transcription	Liver	Liver
38	chr10:97384200-97403000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr10:97384400-97402800	Strong transcription	HUVEC	blood vessel
40	chr10:97384600-97402600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr10:97385800-97408600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr10:97386600-97411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:97388000-97400600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:97388800-97400400	Weak transcription	Right Ventricle	heart
45	chr10:97388800-97411000	Weak transcription	Fetal Brain Male	brain
46	chr10:97389200-97402000	Weak transcription	Stomach Mucosa	stomach
47	chr10:97389600-97413200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:97389800-97403000	Strong transcription	Fetal Stomach	stomach
49	chr10:97389800-97413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:97390000-97411200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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