Variant report

Variant	rs2278715
Chromosome Location	chr2:47049409-47049410
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	chr2:47038370..47041063-chr2:47049130..47051492,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOCS5-2	chr2:47049240-47049798	XLOC_001459
2	lnc-SOCS5-2	chr2:47049240-47050498	XLOC_001459
3	lnc-SOCS5-2	chr2:47049240-47049799	NR_034099

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

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

rs_ID	r²[population]
rs1053952	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs11683874	0.82[EUR][1000 genomes]
rs2289930	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4953426	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6718957	0.86[YRI][hapmap]

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:24 , 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	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
4	chr2:47045200-47054800	Weak transcription	Spleen	Spleen
5	chr2:47045600-47053000	Weak transcription	NHDF-Ad	bronchial
6	chr2:47046200-47051200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:47046200-47051600	Weak transcription	HMEC	breast
8	chr2:47046400-47052000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:47048400-47049600	Enhancers	Left Ventricle	heart
10	chr2:47048400-47049600	Enhancers	Right Atrium	heart
11	chr2:47048400-47049600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:47048400-47049600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:47048800-47049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:47048800-47049600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:47048800-47049600	Enhancers	Psoas Muscle	Psoas
16	chr2:47048800-47050000	Enhancers	Fetal Heart	heart
17	chr2:47048800-47050600	Strong transcription	Placenta	Placenta
18	chr2:47049200-47050800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:47049200-47052000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:47049200-47053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:47049200-47053800	Weak transcription	Lung	lung
22	chr2:47049400-47052800	Weak transcription	Osteobl	bone
23	chr2:47049400-47053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:47049400-47053200	Weak transcription	Right Ventricle	heart

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