Variant report

Variant	rs12992014
Chromosome Location	chr2:179691285-179691286
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	chr2:179671982..179674872-chr2:179690268..179692202,2	K562	blood:

Variant related genes	Relation type
ENSG00000155657	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10190741	0.81[EUR][1000 genomes]
rs11693372	0.87[ASN][1000 genomes]
rs12464151	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464215	0.81[EUR][1000 genomes]
rs12465459	0.84[ASN][1000 genomes]
rs12469367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471428	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13006510	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1844334	0.87[ASN][1000 genomes]
rs2366912	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3769858	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6715406	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6729746	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6733291	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7561149	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591782	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592323	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7600330	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179685000-179692600	Weak transcription	Right Ventricle	heart
3	chr2:179685000-179693800	Weak transcription	HSMM	muscle
4	chr2:179685000-179694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179685200-179692000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:179685200-179692200	Weak transcription	Aorta	Aorta
7	chr2:179685200-179692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:179685200-179694000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:179685200-179694000	Weak transcription	HSMMtube	muscle
10	chr2:179685200-179698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:179685600-179698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:179685800-179693400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:179685800-179698000	Weak transcription	Fetal Heart	heart
14	chr2:179689200-179692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:179689400-179693800	Enhancers	HUVEC	blood vessel
16	chr2:179690000-179691800	Weak transcription	Osteobl	bone
17	chr2:179690400-179694000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:179690600-179693000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:179690600-179693000	Weak transcription	Left Ventricle	heart
20	chr2:179690600-179701800	Weak transcription	Lung	lung
21	chr2:179690600-179701800	Weak transcription	Pancreas	Pancrea
22	chr2:179691000-179691400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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