Variant report

Variant	rs11680340
Chromosome Location	chr2:41024522-41024523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1012304	0.83[EUR][1000 genomes]
rs10176077	0.84[EUR][1000 genomes]
rs10211572	0.83[ASN][1000 genomes]
rs10445883	0.82[ASN][1000 genomes]
rs10490262	0.84[ASN][1000 genomes]
rs10490263	0.83[ASW][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap]
rs11124757	0.83[ASN][1000 genomes]
rs11124764	0.85[EUR][1000 genomes]
rs11675923	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11689342	0.85[JPT][hapmap]
rs12613670	0.85[EUR][1000 genomes]
rs12615804	0.83[ASN][1000 genomes]
rs12712708	0.83[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.82[ASN][1000 genomes]
rs12712716	0.85[EUR][1000 genomes]
rs13016866	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1456584	0.88[ASN][1000 genomes]
rs17026357	0.80[CHB][hapmap];0.80[JPT][hapmap]
rs1861305	0.84[ASN][1000 genomes]
rs1861306	0.84[ASN][1000 genomes]
rs1869988	0.82[EUR][1000 genomes]
rs1869989	0.83[EUR][1000 genomes]
rs2024436	0.83[ASN][1000 genomes]
rs2024437	0.81[CHB][hapmap]
rs2045341	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2045342	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075195	0.84[ASN][1000 genomes]
rs2080341	0.84[ASN][1000 genomes]
rs2098360	0.82[ASN][1000 genomes]
rs2216041	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs2373937	0.82[EUR][1000 genomes]
rs36081778	0.83[ASN][1000 genomes]
rs3851317	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs4101520	0.81[ASN][1000 genomes]
rs4552230	0.84[ASN][1000 genomes]
rs4952649	0.83[EUR][1000 genomes]
rs62141389	0.83[ASN][1000 genomes]
rs7563703	0.84[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7569820	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7569825	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7580786	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7589309	0.82[ASN][1000 genomes]
rs7599234	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs918013	0.83[ASN][1000 genomes]
rs9309061	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873933	chr2:40989061-41075134	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1001341	chr2:41014247-41208153	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:41024000-41024800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:41024000-41024800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:41024000-41024800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:41024000-41025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:41024200-41024800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:41024200-41025000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:41024400-41024800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:41024400-41025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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