Variant report

Variant	rs6696653
Chromosome Location	chr1:84847937-84847938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12039378	0.84[EUR][1000 genomes]
rs12042948	0.92[EUR][1000 genomes]
rs12044734	0.93[EUR][1000 genomes]
rs12568281	0.89[EUR][1000 genomes]
rs2275571	0.89[EUR][1000 genomes]
rs477253	0.90[EUR][1000 genomes]
rs507863	0.88[EUR][1000 genomes]
rs508767	0.88[EUR][1000 genomes]
rs548310	0.91[EUR][1000 genomes]
rs576888	0.91[EUR][1000 genomes]
rs579351	0.89[EUR][1000 genomes]
rs580171	0.93[EUR][1000 genomes]
rs585935	0.91[EUR][1000 genomes]
rs585958	0.91[EUR][1000 genomes]
rs636484	0.89[EUR][1000 genomes]
rs649845	0.90[EUR][1000 genomes]
rs666062	0.93[EUR][1000 genomes]
rs7554646	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84844000-84853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84845400-84848000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:84845400-84848600	Weak transcription	Hela-S3	cervix
4	chr1:84845600-84852400	Weak transcription	HMEC	breast
5	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:84845800-84851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:84845800-84851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:84845800-84854800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:84846400-84856000	Weak transcription	NHLF	lung
10	chr1:84847400-84848000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:84847400-84848000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:84847400-84848600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:84847400-84848600	Enhancers	NHEK	skin
14	chr1:84847400-84848800	Enhancers	HUVEC	blood vessel
15	chr1:84847600-84848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:84847600-84848600	Enhancers	NH-A	brain
17	chr1:84847800-84848000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:84847800-84848200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:84847800-84848200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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