Variant report

Variant	rs4555380
Chromosome Location	chr2:178473993-178473994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16865476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977672	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977675	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977679	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	1.00[AMR][1000 genomes]
rs73977685	1.00[AMR][1000 genomes]
rs73977693	1.00[AMR][1000 genomes]
rs73977698	1.00[AMR][1000 genomes]
rs73977699	1.00[AMR][1000 genomes]
rs73979509	1.00[AMR][1000 genomes]
rs73979510	1.00[AMR][1000 genomes]
rs73979511	1.00[AMR][1000 genomes]
rs7559596	1.00[AMR][1000 genomes]
rs7575717	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:178462800-178475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:178463800-178475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
5	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
8	chr2:178469400-178475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:178469400-178475000	Weak transcription	Aorta	Aorta
10	chr2:178471800-178475600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:178471800-178477400	Weak transcription	Fetal Stomach	stomach
12	chr2:178471800-178482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:178472400-178474800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:178472600-178481000	Weak transcription	Fetal Kidney	kidney
15	chr2:178473600-178475000	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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