Variant report

Variant	rs1836672
Chromosome Location	chr2:178862673-178862674
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: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10198111	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1020010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10211367	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10930820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10930822	0.83[EUR][1000 genomes]
rs11674668	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs12472886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12473461	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12477170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs12478277	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12478848	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12618606	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12621562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12990719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs13030747	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1347441	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1527286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527293	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1527294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1527295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1527296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1534289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1546813	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1554776	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866000	0.93[YRI][hapmap]
rs17636610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17687590	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17687668	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1821629	0.91[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1830209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1852496	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1852497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1852499	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1982131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1991994	0.94[ASN][1000 genomes]
rs2009303	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2043547	1.00[YRI][hapmap]
rs2060490	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2060491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117738	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2117740	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4335982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567975	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4893844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4893994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183413	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62185279	0.82[EUR][1000 genomes]
rs6433709	0.95[CEU][hapmap]
rs6433710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6709256	0.90[CEU][hapmap]
rs6726809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6750869	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6758442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs744397	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs744398	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7570423	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7608073	0.95[CEU][hapmap]
rs764780	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs934568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9679090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	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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