Variant report

Variant	rs57961408
Chromosome Location	chr2:205728250-205728251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58415117	0.91[AFR][1000 genomes]
rs61315722	1.00[AFR][1000 genomes]
rs6435257	1.00[AFR][1000 genomes]
rs6715583	1.00[AFR][1000 genomes]
rs6718742	0.91[AFR][1000 genomes]
rs73982557	0.91[AFR][1000 genomes]
rs73982559	1.00[AFR][1000 genomes]
rs73982591	1.00[AFR][1000 genomes]
rs73982592	1.00[AFR][1000 genomes]
rs73982593	1.00[AFR][1000 genomes]
rs73982595	1.00[AFR][1000 genomes]
rs73982602	1.00[AFR][1000 genomes]
rs73984404	1.00[AFR][1000 genomes]
rs7574812	1.00[AFR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205724600-205728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:205724800-205728400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:205725200-205728800	Weak transcription	Ovary	ovary
4	chr2:205725200-205730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:205725200-205734600	Weak transcription	Pancreas	Pancrea
6	chr2:205725400-205728600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:205725400-205733600	Weak transcription	Fetal Lung	lung
8	chr2:205725400-205734400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:205725800-205733400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:205726600-205728400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:205727400-205729000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205727800-205728600	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:205727800-205729400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:205728000-205728400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:205728000-205728600	Enhancers	NHLF	lung
16	chr2:205728000-205728800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:205728000-205729000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:205728200-205728600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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