Variant report

Variant	rs483920
Chromosome Location	chr10:97370600-97370601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10509688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11188409	0.95[CHB][hapmap]
rs11188427	0.89[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs12414244	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12414904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12768006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769303	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12773566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12783226	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs1933164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2485642	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2861150	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3176894	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs34037152	1.00[AFR][1000 genomes]
rs34297443	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35087577	0.80[AMR][1000 genomes]
rs4244321	1.00[AFR][1000 genomes]
rs4481960	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs476392	0.85[ASN][1000 genomes]
rs4918949	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4918963	1.00[AFR][1000 genomes]
rs561156	0.85[ASN][1000 genomes]
rs568401	0.85[ASN][1000 genomes]
rs7096610	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs72813744	0.80[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs483920	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
4	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:97364200-97372000	Strong transcription	Fetal Intestine Large	intestine
6	chr10:97364400-97373200	Strong transcription	Liver	Liver
7	chr10:97364400-97378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:97364400-97378600	Strong transcription	Fetal Brain Female	brain
9	chr10:97364400-97378600	Strong transcription	Spleen	Spleen
10	chr10:97364400-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:97364600-97372800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr10:97364600-97377400	Strong transcription	Placenta	Placenta
14	chr10:97364600-97378600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr10:97364600-97378600	Strong transcription	Pancreas	Pancrea
16	chr10:97364600-97378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:97364600-97378800	Strong transcription	NH-A	brain
18	chr10:97364600-97379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:97364600-97379000	Strong transcription	GM12878-XiMat	blood
20	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:97364800-97372200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:97364800-97372600	Strong transcription	HepG2	liver
23	chr10:97364800-97378600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:97364800-97378600	Strong transcription	Gastric	stomach
25	chr10:97364800-97378800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:97364800-97378800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr10:97364800-97378800	Strong transcription	Osteobl	bone
28	chr10:97364800-97379000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:97365000-97372400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr10:97365000-97372400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr10:97365000-97373600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:97365000-97378200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:97365000-97378400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:97365000-97378600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:97365000-97378600	Strong transcription	Brain Germinal Matrix	brain
38	chr10:97365000-97378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:97365000-97378800	Strong transcription	Adipose Nuclei	Adipose
40	chr10:97365000-97379000	Strong transcription	Dnd41	blood
41	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:97365200-97371800	Strong transcription	Ovary	ovary
44	chr10:97365200-97377800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr10:97365200-97378600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:97365200-97378800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr10:97365200-97378800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:97365200-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:97365200-97379200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:97365200-97379200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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