Variant report

Variant	rs13002245
Chromosome Location	chr2:178862560-178862561
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: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497482	0.92[CEU][hapmap]
rs12987515	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12994400	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12994494	0.93[CEU][hapmap]
rs13002118	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13002444	0.93[CEU][hapmap]
rs13004037	1.00[AFR][1000 genomes]
rs13004202	0.93[CEU][hapmap]
rs13006992	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13007409	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13007766	0.81[CEU][hapmap]
rs13010041	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs13012088	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13014074	1.00[AFR][1000 genomes]
rs13014945	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13019139	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13022805	0.93[CEU][hapmap];1.00[AFR][1000 genomes]
rs13026166	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13027484	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13030321	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13033904	1.00[AFR][1000 genomes]
rs1435573	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1435574	1.00[CEU][hapmap]
rs17329811	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2886651	1.00[CEU][hapmap]
rs34171827	0.82[EUR][1000 genomes]
rs34261053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34356580	0.82[EUR][1000 genomes]
rs34595897	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34648335	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34699522	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34752624	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34956941	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35068650	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35305315	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35391362	1.00[AFR][1000 genomes]
rs35391652	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35397469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35678669	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35691613	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35862134	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35987785	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4893988	0.81[CEU][hapmap]
rs6746482	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6756606	0.92[CEU][hapmap]
rs71423514	0.82[EUR][1000 genomes]
rs71423525	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71423542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71423543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71423544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7574975	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7588187	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7588301	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7596644	0.92[CEU][hapmap]
rs7605249	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7605744	0.93[CEU][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	chr2:178861600-178862600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:178862000-178862600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:178862000-178863600	Enhancers	HSMM	muscle
7	chr2:178862000-178863800	Enhancers	HSMMtube	muscle
8	chr2:178862200-178863600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:178862200-178863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:178862200-178863600	Enhancers	NH-A	brain
11	chr2:178862400-178863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:178862400-178863600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:178862400-178863600	Enhancers	A549	lung
14	chr2:178862400-178863600	Enhancers	HMEC	breast
15	chr2:178862400-178863600	Enhancers	Osteobl	bone

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