Variant report

Variant	rs7598842
Chromosome Location	chr2:50450460-50450461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10490235	0.82[CEU][hapmap]
rs10490237	1.00[CHD][hapmap]
rs10495982	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap]
rs11887976	1.00[CHD][hapmap]
rs12464203	1.00[CHD][hapmap]
rs12468665	1.00[CEU][hapmap]
rs12476988	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17040190	0.82[CEU][hapmap]
rs17040199	0.82[CEU][hapmap]
rs17447792	0.82[CEU][hapmap]
rs17447848	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17461653	1.00[CEU][hapmap]
rs17461897	1.00[CEU][hapmap]
rs17462099	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17463187	1.00[CEU][hapmap]
rs17496470	1.00[CHD][hapmap]
rs17505611	1.00[CHD][hapmap]
rs17507002	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17508400	1.00[CEU][hapmap]
rs17508435	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17508684	1.00[CEU][hapmap]
rs1915228	1.00[CHD][hapmap]
rs1915229	1.00[CHD][hapmap]
rs7602425	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv470459	chr2:50431752-50514027	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv581840	chr2:50432463-50450879	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50449600-50450600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:50449600-50450600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:50449600-50450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:50449600-50450600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:50449600-50450600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:50449600-50450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:50450400-50452200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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