Variant report

Variant	rs56988799
Chromosome Location	chr2:179690535-179690536
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	chr2:179671982..179674872-chr2:179690268..179692202,2	K562	blood:

Variant related genes	Relation type
ENSG00000155657	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10184892	0.83[EUR][1000 genomes]
rs10189747	0.82[ASN][1000 genomes]
rs10190488	0.89[ASN][1000 genomes]
rs10210964	0.89[ASN][1000 genomes]
rs10930835	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10930836	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11885885	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886281	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11897189	0.96[ASN][1000 genomes]
rs1489482	0.93[ASN][1000 genomes]
rs1489484	0.89[ASN][1000 genomes]
rs2046777	0.90[ASN][1000 genomes]
rs2129108	0.82[ASN][1000 genomes]
rs2170850	0.82[ASN][1000 genomes]
rs4292125	0.94[ASN][1000 genomes]
rs4893855	0.82[ASN][1000 genomes]
rs59415652	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7590740	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998329	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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:24 , 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	chr2:179674400-179691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179685000-179692600	Weak transcription	Right Ventricle	heart
4	chr2:179685000-179693800	Weak transcription	HSMM	muscle
5	chr2:179685000-179694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179685200-179692000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:179685200-179692200	Weak transcription	Aorta	Aorta
8	chr2:179685200-179692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:179685200-179694000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:179685200-179694000	Weak transcription	HSMMtube	muscle
11	chr2:179685200-179698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:179685600-179698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179685800-179693400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179685800-179698000	Weak transcription	Fetal Heart	heart
15	chr2:179689200-179692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:179689400-179693800	Enhancers	HUVEC	blood vessel
17	chr2:179689600-179690600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:179690000-179691800	Weak transcription	Osteobl	bone
19	chr2:179690200-179690600	ZNF genes & repeats	Left Ventricle	heart
20	chr2:179690200-179690600	Enhancers	HMEC	breast
21	chr2:179690400-179690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:179690400-179690600	ZNF genes & repeats	Lung	lung
23	chr2:179690400-179690600	ZNF genes & repeats	Pancreas	Pancrea
24	chr2:179690400-179694000	Weak transcription	Muscle Satellite Cultured Cells	--

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