Variant report

Variant	rs12778814
Chromosome Location	chr10:97367117-97367118
allele	G/T
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: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1053905	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786226	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882638	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882640	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882641	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882642	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882643	0.85[CHB][hapmap]
rs10882644	0.85[CHB][hapmap]
rs10882649	0.85[CHB][hapmap]
rs10882654	1.00[CHB][hapmap]
rs11188397	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188398	0.85[CHB][hapmap]
rs11188399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	0.85[CHB][hapmap]
rs11188411	0.85[CHB][hapmap]
rs11188417	0.85[CHB][hapmap]
rs11188444	0.82[CHB][hapmap]
rs12780161	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409709	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461546	0.85[CHB][hapmap]
rs2296689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296691	0.85[CHB][hapmap]
rs2296692	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4037	0.85[CHB][hapmap]
rs4258314	0.85[CHB][hapmap]
rs568046	0.81[ASW][hapmap]
rs58419111	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099284	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100377	0.86[CHB][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749050	0.85[CHB][hapmap]
rs7905711	0.85[ASN][1000 genomes]
rs943342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943343	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12778814	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs12778814	ALDH18A1	cis	cerebellum	SCAN
rs12778814	ENTPD1	cis	lymphoblastoid	seeQTL
rs12778814	C10orf12	cis	cerebellum	SCAN

Chromatin state (count:121 , 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	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
3	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
7	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:97363400-97370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:97363400-97370400	Strong transcription	Fetal Intestine Small	intestine
10	chr10:97363600-97369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:97363800-97367600	Enhancers	Colon Smooth Muscle	Colon
12	chr10:97363800-97368400	Weak transcription	Brain Substantia Nigra	brain
13	chr10:97363800-97369200	Weak transcription	HMEC	breast
14	chr10:97363800-97369800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:97364000-97367400	Enhancers	Rectal Smooth Muscle	rectum
16	chr10:97364000-97370200	Strong transcription	Small Intestine	intestine
17	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
19	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:97364200-97372000	Strong transcription	Fetal Intestine Large	intestine
21	chr10:97364400-97367200	Genic enhancers	Fetal Stomach	stomach
22	chr10:97364400-97370000	Weak transcription	Fetal Brain Male	brain
23	chr10:97364400-97373200	Strong transcription	Liver	Liver
24	chr10:97364400-97378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:97364400-97378600	Strong transcription	Fetal Brain Female	brain
26	chr10:97364400-97378600	Strong transcription	Spleen	Spleen
27	chr10:97364400-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:97364600-97369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:97364600-97372800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr10:97364600-97377400	Strong transcription	Placenta	Placenta
32	chr10:97364600-97378600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr10:97364600-97378600	Strong transcription	Pancreas	Pancrea
34	chr10:97364600-97378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:97364600-97378800	Strong transcription	NH-A	brain
36	chr10:97364600-97379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:97364600-97379000	Strong transcription	GM12878-XiMat	blood
38	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:97364800-97368000	Strong transcription	Thymus	Thymus
40	chr10:97364800-97368200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:97364800-97368600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:97364800-97369000	Weak transcription	Right Ventricle	heart
43	chr10:97364800-97372200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:97364800-97372600	Strong transcription	HepG2	liver
45	chr10:97364800-97378600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:97364800-97378600	Strong transcription	Gastric	stomach
47	chr10:97364800-97378800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:97364800-97378800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr10:97364800-97378800	Strong transcription	Osteobl	bone
50	chr10:97364800-97379000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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