Variant report

Variant	rs12359272
Chromosome Location	chr10:97365163-97365164
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	chr10:97129620..97132009-chr10:97364748..97367399,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10786227	1.00[JPT][hapmap]
rs10882638	0.84[MEX][hapmap]
rs10882640	0.84[MEX][hapmap]
rs10882643	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10882644	0.96[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882649	0.92[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs11188393	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11188394	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188396	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188398	0.96[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188399	1.00[JPT][hapmap]
rs11188400	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11188404	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188406	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188407	0.96[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188411	0.96[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188417	0.96[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188437	0.82[AMR][1000 genomes]
rs11188444	0.92[CEU][hapmap]
rs11188455	0.92[CEU][hapmap]
rs11188484	0.92[CEU][hapmap]
rs11591779	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11592213	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12357173	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs12358481	0.92[CEU][hapmap]
rs1270505	0.88[MEX][hapmap]
rs1409709	0.84[MEX][hapmap]
rs17461546	0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs17462179	0.92[CEU][hapmap]
rs17553401	0.92[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap]
rs2004611	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2017218	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2152916	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2296691	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2861151	0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap]
rs3176895	0.92[CEU][hapmap]
rs3763707	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4037	1.00[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4258314	0.96[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4417206	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4917697	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918951	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918955	0.80[EUR][1000 genomes]
rs4918966	0.92[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs526928	0.88[MEX][hapmap]
rs56322409	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57347444	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61871790	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61871792	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61871793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7086071	0.84[MEX][hapmap]
rs749050	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7917792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7918947	0.84[MEX][hapmap]
rs8758	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12359272	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs12359272	ENTPD1	cis	multi-tissue	Pritchard
rs12359272	NOC3L	cis	cerebellum	SCAN
rs12359272	ENTPD1	cis	lymphoblastoid	seeQTL
rs12359272	FRAT2	cis	cerebellum	SCAN
rs12359272	ALDH18A1	cis	cerebellum	SCAN
rs12359272	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr10:97360800-97366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:97361000-97365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:97361000-97366000	Weak transcription	Hela-S3	cervix
5	chr10:97361000-97366400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:97361000-97366800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
8	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:97361400-97365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:97361400-97365800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:97361400-97366600	Weak transcription	K562	blood
13	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
15	chr10:97362000-97365200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:97362400-97365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:97362400-97365400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr10:97362600-97365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:97362600-97365200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:97362600-97365400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:97363000-97365600	Weak transcription	A549	lung
22	chr10:97363000-97366000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:97363000-97366800	Weak transcription	HSMM	muscle
24	chr10:97363200-97365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:97363200-97365400	Enhancers	HSMMtube	muscle
26	chr10:97363200-97365600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr10:97363200-97366400	Weak transcription	HUVEC	blood vessel
28	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:97363400-97366600	Weak transcription	Colonic Mucosa	Colon
30	chr10:97363400-97370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:97363400-97370400	Strong transcription	Fetal Intestine Small	intestine
32	chr10:97363600-97365200	Weak transcription	Ovary	ovary
33	chr10:97363600-97365400	Weak transcription	NHEK	skin
34	chr10:97363600-97369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:97363800-97365400	Weak transcription	Fetal Thymus	thymus
36	chr10:97363800-97367600	Enhancers	Colon Smooth Muscle	Colon
37	chr10:97363800-97368400	Weak transcription	Brain Substantia Nigra	brain
38	chr10:97363800-97369200	Weak transcription	HMEC	breast
39	chr10:97363800-97369800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr10:97364000-97365600	Enhancers	Aorta	Aorta
41	chr10:97364000-97365600	Enhancers	Left Ventricle	heart
42	chr10:97364000-97365600	Enhancers	Right Atrium	heart
43	chr10:97364000-97365800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:97364000-97366600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:97364000-97367400	Enhancers	Rectal Smooth Muscle	rectum
46	chr10:97364000-97370200	Strong transcription	Small Intestine	intestine
47	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
49	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:97364200-97365200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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