Variant report

Variant	rs4953426
Chromosome Location	chr2:47046497-47046498
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	chr2:47044554..47046907-chr2:47075215..47076971,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOCS5-2	chr2:47045319-47046597	NONHSAT070528

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11683874	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278715	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289929	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2289930	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289933	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718957	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47042400-47047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:47042400-47048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
6	chr2:47045200-47054800	Weak transcription	Spleen	Spleen
7	chr2:47045600-47053000	Weak transcription	NHDF-Ad	bronchial
8	chr2:47045800-47048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:47046000-47048800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47046200-47048400	Weak transcription	Right Ventricle	heart
11	chr2:47046200-47048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:47046200-47048400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:47046200-47048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:47046200-47048800	Weak transcription	Psoas Muscle	Psoas
15	chr2:47046200-47051200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:47046200-47051600	Weak transcription	HMEC	breast
17	chr2:47046400-47046800	Enhancers	Placenta	Placenta
18	chr2:47046400-47048400	Weak transcription	Left Ventricle	heart
19	chr2:47046400-47048400	Weak transcription	Right Atrium	heart
20	chr2:47046400-47048800	Weak transcription	Fetal Heart	heart
21	chr2:47046400-47048800	Weak transcription	Lung	lung
22	chr2:47046400-47052000	Weak transcription	Stomach Smooth Muscle	stomach

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