Variant report

Variant	rs7609385
Chromosome Location	chr2:64255895-64255896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11886163	0.81[EUR][1000 genomes]
rs17028259	0.81[EUR][1000 genomes]
rs6714745	0.90[CEU][hapmap];0.94[GIH][hapmap]
rs6727909	0.90[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs6738024	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6740299	0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs6758281	0.90[EUR][1000 genomes]
rs72893109	0.91[EUR][1000 genomes]
rs7560338	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7568914	0.81[EUR][1000 genomes]
rs7594670	0.82[EUR][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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:64249000-64256200	Weak transcription	NHDF-Ad	bronchial
3	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:64251400-64256600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:64251400-64256600	Weak transcription	Stomach Mucosa	stomach
6	chr2:64254000-64258000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:64254200-64256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:64254400-64256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:64254400-64256400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:64254600-64256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:64254600-64256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:64255400-64257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:64255400-64257000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:64255800-64256000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:64255800-64256800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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