Variant report

Variant	rs617314
Chromosome Location	chr2:21268219-21268220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12713554	0.89[ASW][hapmap]
rs12720817	0.84[EUR][1000 genomes]
rs12720818	0.84[EUR][1000 genomes]
rs1801702	1.00[CEU][hapmap]
rs531819	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6413458	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21265200-21268400	Enhancers	Spleen	Spleen
2	chr2:21266000-21268400	Enhancers	Lung	lung
3	chr2:21266800-21270200	Weak transcription	Ovary	ovary
4	chr2:21267000-21268400	Enhancers	Adipose Nuclei	Adipose
5	chr2:21267000-21270000	Weak transcription	Gastric	stomach
6	chr2:21267200-21268400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr2:21267200-21268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:21267200-21268600	Flanking Active TSS	Liver	Liver
9	chr2:21267400-21268400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr2:21267400-21268400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:21267400-21271200	Enhancers	Fetal Intestine Small	intestine
12	chr2:21267600-21271200	Enhancers	Fetal Intestine Large	intestine
13	chr2:21268000-21268400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr2:21268200-21270000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:21268200-21270000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:21268200-21270000	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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