Variant report

Variant	rs10863578
Chromosome Location	chr1:221213997-221213998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10746405	0.97[ASN][1000 genomes]
rs11118641	0.85[ASN][1000 genomes]
rs11118648	0.81[ASN][1000 genomes]
rs11118652	0.82[ASN][1000 genomes]
rs11118653	0.83[ASN][1000 genomes]
rs12127195	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1596173	0.83[ASN][1000 genomes]
rs17009346	0.85[ASN][1000 genomes]
rs17009398	0.85[ASN][1000 genomes]
rs4142348	0.89[ASN][1000 genomes]
rs4142351	0.82[ASN][1000 genomes]
rs4391670	0.97[ASN][1000 genomes]
rs4625285	0.93[ASN][1000 genomes]
rs4846682	0.97[ASN][1000 genomes]
rs4846684	0.96[ASN][1000 genomes]
rs4846685	0.96[ASN][1000 genomes]
rs55966903	0.85[ASN][1000 genomes]
rs58513421	0.85[ASN][1000 genomes]
rs61819242	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6661535	0.84[ASN][1000 genomes]
rs6687526	0.96[ASN][1000 genomes]
rs6687905	0.97[ASN][1000 genomes]
rs6698945	0.82[ASN][1000 genomes]
rs6699300	0.80[ASN][1000 genomes]
rs715300	0.83[ASN][1000 genomes]
rs72742507	0.82[ASN][1000 genomes]
rs7354867	0.82[ASN][1000 genomes]
rs7511784	0.83[ASN][1000 genomes]
rs7512831	0.85[ASN][1000 genomes]
rs7517729	0.82[ASN][1000 genomes]
rs7523927	0.81[ASN][1000 genomes]
rs7526270	0.82[ASN][1000 genomes]
rs7542237	0.97[ASN][1000 genomes]
rs7544056	0.83[ASN][1000 genomes]
rs7554672	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:221208800-221214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221209600-221214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:221209600-221214000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:221209600-221218600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:221209800-221214200	Weak transcription	NHLF	lung
7	chr1:221210000-221214000	Weak transcription	Hela-S3	cervix
8	chr1:221210000-221214200	Weak transcription	HMEC	breast
9	chr1:221210000-221214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:221213000-221214000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:221213000-221214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:221213000-221214400	Enhancers	K562	blood
13	chr1:221213000-221214600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:221213200-221214200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:221213200-221221000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:221213800-221219200	Weak transcription	NHDF-Ad	bronchial

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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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