Variant report

Variant	rs1489487
Chromosome Location	chr2:179778444-179778445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10167882	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167919	0.83[ASN][1000 genomes]
rs12990128	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1387473	0.80[ASN][1000 genomes]
rs2130220	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6724114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750760	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7562602	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs955738	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1000545	chr2:179768359-179843612	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:179761200-179782800	Weak transcription	Right Ventricle	heart
7	chr2:179770000-179788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:179770200-179789200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179771600-179781600	Weak transcription	Lung	lung
11	chr2:179772200-179779800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:179775000-179779000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:179775600-179780200	Weak transcription	Right Atrium	heart
14	chr2:179775600-179782400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:179775600-179824200	Weak transcription	Left Ventricle	heart
16	chr2:179775600-179826400	Weak transcription	Pancreas	Pancrea
17	chr2:179776200-179780400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:179776200-179783000	Weak transcription	Fetal Heart	heart
19	chr2:179777000-179778800	Enhancers	HSMM	muscle
20	chr2:179777400-179778600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:179777400-179779400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:179777800-179778800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:179777800-179779000	Weak transcription	NHLF	lung
24	chr2:179777800-179779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:179777800-179779400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:179778000-179778800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:179778000-179779000	Weak transcription	NHDF-Ad	bronchial
28	chr2:179778000-179779200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:179778000-179779200	Weak transcription	Osteobl	bone
30	chr2:179778000-179782400	Weak transcription	HSMMtube	muscle
31	chr2:179778200-179779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:179778200-179779400	Enhancers	Psoas Muscle	Psoas

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