Variant report

Variant	rs6752913
Chromosome Location	chr2:178862788-178862789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178860190..178862819-chr2:178863272..178865275,2	K562	blood:

Variant related genes	Relation type
ENSG00000213962	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1370657	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1438052	0.86[ASW][hapmap];0.88[LWK][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs1898588	0.86[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs2573086	0.84[AFR][1000 genomes]
rs2695095	0.86[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695096	0.86[ASW][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695114	0.84[AFR][1000 genomes]
rs2695720	0.86[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695721	0.86[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695723	0.88[YRI][hapmap]
rs2695725	0.86[ASW][hapmap];0.88[YRI][hapmap]
rs2695727	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56189218	1.00[AFR][1000 genomes]
rs56230218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300810	0.84[AFR][1000 genomes]
rs6433700	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712039	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9283485	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs934806	0.85[YRI][hapmap]

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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv961915	chr2:178860061-178863452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:178861400-178863800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:178862000-178863600	Enhancers	HSMM	muscle
5	chr2:178862000-178863800	Enhancers	HSMMtube	muscle
6	chr2:178862200-178863600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:178862200-178863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:178862200-178863600	Enhancers	NH-A	brain
9	chr2:178862400-178863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:178862400-178863600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:178862400-178863600	Enhancers	A549	lung
12	chr2:178862400-178863600	Enhancers	HMEC	breast
13	chr2:178862400-178863600	Enhancers	Osteobl	bone
14	chr2:178862600-178863200	Enhancers	NHEK	skin
15	chr2:178862600-178863800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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