Variant report

Variant	rs524084
Chromosome Location	chr10:97364715-97364716
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10159941	0.85[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10509687	0.80[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10748634	0.84[CHB][hapmap]
rs10748635	0.87[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748636	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748637	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748639	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10748640	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10748641	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10786230	0.94[ASW][hapmap];0.86[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10786235	0.94[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs10882646	0.83[CHB][hapmap]
rs10882653	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1113881	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11188459	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs11188485	0.84[CHB][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs11188488	0.84[CHB][hapmap]
rs12262943	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs17111041	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1890187	0.87[ASN][1000 genomes]
rs1933166	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1933171	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1953710	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs2211002	0.84[CHB][hapmap]
rs2225892	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2225893	0.94[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2225894	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2485643	0.82[AFR][1000 genomes]
rs3763705	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763706	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3793748	0.87[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4290159	0.82[CHB][hapmap]
rs4457685	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4501930	0.87[ASW][hapmap];0.83[GIH][hapmap]
rs473251	0.96[ASN][1000 genomes]
rs476373	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs482811	0.92[ASN][1000 genomes]
rs4917698	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4917700	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4917701	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4918950	0.84[CHB][hapmap]
rs4918956	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918958	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4918964	0.85[CEU][hapmap];0.84[CHB][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs496426	0.84[CHB][hapmap]
rs497331	0.92[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs501603	0.84[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs556869	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs571505	0.92[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6584014	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6584015	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6584026	0.88[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs6584028	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7069234	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs7073723	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7073936	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7079911	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7080114	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7081414	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs7894052	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7905653	0.87[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7909569	0.83[CHB][hapmap]
rs7915345	0.93[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7918235	0.84[CHB][hapmap]
rs7919773	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7920850	0.94[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs945958	0.84[CHB][hapmap]
rs951418	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs524084	ENTPD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 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	chr10:97360800-97364800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:97360800-97365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:97360800-97365000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:97360800-97366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:97361000-97364800	Weak transcription	Stomach Mucosa	stomach
7	chr10:97361000-97365000	Weak transcription	Adipose Nuclei	Adipose
8	chr10:97361000-97365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:97361000-97365000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:97361000-97365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:97361000-97366000	Weak transcription	Hela-S3	cervix
12	chr10:97361000-97366400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:97361000-97366800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
15	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:97361200-97364800	Weak transcription	Brain Anterior Caudate	brain
18	chr10:97361400-97365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:97361400-97365800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:97361400-97366600	Weak transcription	K562	blood
21	chr10:97361600-97364800	Weak transcription	Osteobl	bone
22	chr10:97361600-97365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:97361800-97364800	Weak transcription	Thymus	Thymus
25	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
26	chr10:97362000-97365200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:97362400-97364800	Weak transcription	NHLF	lung
28	chr10:97362400-97365000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:97362400-97365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:97362400-97365400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:97362600-97364800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr10:97362600-97365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:97362600-97365200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:97362600-97365400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:97362800-97364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:97362800-97364800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:97363000-97364800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:97363000-97364800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:97363000-97364800	Weak transcription	Gastric	stomach
40	chr10:97363000-97365600	Weak transcription	A549	lung
41	chr10:97363000-97366000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr10:97363000-97366800	Weak transcription	HSMM	muscle
43	chr10:97363200-97364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr10:97363200-97365000	Weak transcription	Dnd41	blood
45	chr10:97363200-97365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr10:97363200-97365400	Enhancers	HSMMtube	muscle
47	chr10:97363200-97365600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr10:97363200-97366400	Weak transcription	HUVEC	blood vessel
49	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:97363400-97365000	Weak transcription	Primary hematopoietic stem cells	blood

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