Variant report

Variant	rs818182
Chromosome Location	chr2:10627544-10627545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1641129	0.99[ASN][1000 genomes]
rs2463457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs818155	0.82[CHB][hapmap]
rs818158	0.81[ASN][1000 genomes]
rs818174	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818176	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2755724	chr2:10624654-10675549	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10619400-10636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10626400-10628000	Bivalent Enhancer	HepG2	liver
3	chr2:10626600-10627600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:10626600-10627600	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:10626600-10627600	Enhancers	Fetal Intestine Small	intestine
6	chr2:10626600-10627600	Enhancers	Gastric	stomach
7	chr2:10626600-10627800	Enhancers	Fetal Intestine Large	intestine
8	chr2:10626600-10627800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:10626600-10628000	Enhancers	Stomach Mucosa	stomach
10	chr2:10626800-10627800	Enhancers	Lung	lung
11	chr2:10626800-10627800	Enhancers	Pancreas	Pancrea
12	chr2:10627000-10629600	Weak transcription	Colonic Mucosa	Colon
13	chr2:10627000-10632800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:10627200-10631200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:10627400-10627800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:10627400-10627800	Enhancers	A549	lung
17	chr2:10627400-10627800	Enhancers	Hela-S3	cervix

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

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