Variant report

Variant	rs4952630
Chromosome Location	chr2:40717245-40717246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11124743	0.84[ASN][1000 genomes]
rs11897805	0.86[ASN][1000 genomes]
rs12470186	0.86[ASN][1000 genomes]
rs12470323	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12712693	0.85[AMR][1000 genomes]
rs12998614	0.83[ASN][1000 genomes]
rs17026154	0.82[ASN][1000 genomes]
rs2301343	0.83[CHB][hapmap]
rs2373862	0.82[ASN][1000 genomes]
rs2373863	0.82[ASN][1000 genomes]
rs35732522	0.92[ASN][1000 genomes]
rs35937727	0.81[ASN][1000 genomes]
rs55742439	0.86[ASN][1000 genomes]
rs56307721	0.83[ASN][1000 genomes]
rs62149443	0.85[ASN][1000 genomes]
rs6544340	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs767154	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:40715800-40718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:40716000-40717400	Flanking Active TSS	Dnd41	blood
3	chr2:40716200-40717400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:40716200-40717400	Active TSS	Right Ventricle	heart
5	chr2:40716400-40717600	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:40717000-40717400	Enhancers	Primary T cells from cord blood	blood
7	chr2:40717000-40717400	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr2:40717000-40717400	Enhancers	Fetal Lung	lung
9	chr2:40717000-40717400	Flanking Active TSS	NHLF	lung
10	chr2:40717000-40718000	Active TSS	Fetal Heart	heart
11	chr2:40717200-40717400	Enhancers	NHDF-Ad	bronchial
12	chr2:40717200-40718000	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:40717200-40718200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40717200-40720800	Weak transcription	Right Atrium	heart
15	chr2:40717200-40723400	Weak transcription	Osteobl	bone
16	chr2:40717200-40726600	Weak transcription	Left Ventricle	heart

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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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