Variant report

Variant	rs6954535
Chromosome Location	chr7:11497699-11497700
allele	C/G
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:9)

rs_ID	r²[population]
rs10231017	0.89[EUR][1000 genomes]
rs17164591	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2074434	0.82[EUR][1000 genomes]
rs2107140	0.83[EUR][1000 genomes]
rs67910311	0.89[ASN][1000 genomes]
rs6948024	0.91[ASN][1000 genomes]
rs6954420	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6968449	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs73066787	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
2	chr7:11468800-11500200	Weak transcription	Pancreas	Pancrea
3	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:11487200-11500000	Weak transcription	Placenta	Placenta
5	chr7:11489600-11498200	Weak transcription	Fetal Intestine Small	intestine
6	chr7:11490800-11515800	Weak transcription	Fetal Stomach	stomach
7	chr7:11493600-11498200	Weak transcription	Fetal Lung	lung
8	chr7:11494600-11499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:11495600-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:11496200-11497800	Weak transcription	A549	lung
11	chr7:11496600-11500400	Enhancers	Hela-S3	cervix
12	chr7:11497000-11498200	Enhancers	HUVEC	blood vessel
13	chr7:11497200-11498200	Enhancers	Stomach Mucosa	stomach
14	chr7:11497200-11499200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:11497200-11499200	Enhancers	NHEK	skin
16	chr7:11497600-11498000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:11497600-11498000	Weak transcription	Dnd41	blood

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

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