Variant report

Variant	rs4671049
Chromosome Location	chr2:62902948-62902949
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	chr2:62682086..62684850-chr2:62901715..62904268,2	K562	blood:
2	chr2:62732443..62734653-chr2:62900758..62903078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186889	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10208675	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038570	0.88[EUR][1000 genomes]
rs1038573	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11900596	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1386400	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs181723	0.87[ASN][1000 genomes]
rs2054835	0.87[ASN][1000 genomes]
rs2901518	0.87[ASN][1000 genomes]
rs2931488	0.87[ASN][1000 genomes]
rs2969300	0.87[ASN][1000 genomes]
rs360787	0.87[ASN][1000 genomes]
rs360788	0.87[ASN][1000 genomes]
rs360789	0.87[ASN][1000 genomes]
rs360790	0.87[ASN][1000 genomes]
rs360793	0.83[ASN][1000 genomes]
rs360794	0.87[ASN][1000 genomes]
rs360795	0.87[ASN][1000 genomes]
rs360796	0.87[ASN][1000 genomes]
rs360802	0.81[ASN][1000 genomes]
rs360805	0.87[ASN][1000 genomes]
rs360806	0.87[ASN][1000 genomes]
rs6745862	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758263	0.87[ASN][1000 genomes]
rs6760804	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7590973	0.85[EUR][1000 genomes];0.93[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	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62900400-62903600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:62900600-62903000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:62900600-62906200	Weak transcription	Osteobl	bone
4	chr2:62900800-62903600	Weak transcription	NHDF-Ad	bronchial
5	chr2:62901000-62903000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:62901200-62903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:62901200-62904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:62901200-62908200	Weak transcription	NHLF	lung
9	chr2:62902000-62903000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:62902000-62903000	Enhancers	HSMMtube	muscle
11	chr2:62902200-62903000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:62902200-62903400	Weak transcription	A549	lung
13	chr2:62902800-62906200	Weak transcription	HepG2	liver

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