Variant report

Variant	rs6699300
Chromosome Location	chr1:221205291-221205292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221198413..221201071-chr1:221201532..221205401,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10746405	0.82[ASN][1000 genomes]
rs10863578	0.80[ASN][1000 genomes]
rs12127195	0.90[JPT][hapmap]
rs4391670	0.82[ASN][1000 genomes]
rs4846682	0.82[ASN][1000 genomes]
rs4846684	0.80[ASN][1000 genomes]
rs4846685	0.80[ASN][1000 genomes]
rs6687526	0.80[ASN][1000 genomes]
rs6687905	0.82[ASN][1000 genomes]
rs7542237	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221194400-221205600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:221196400-221206600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:221196600-221205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:221202200-221205400	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:221203400-221206200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:221203400-221209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:221203800-221206200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:221204200-221206000	Weak transcription	Fetal Lung	lung
10	chr1:221204200-221206200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:221204400-221207600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:221204600-221206400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:221204600-221210000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:221204800-221205400	Enhancers	HUVEC	blood vessel
15	chr1:221205000-221206000	Weak transcription	Fetal Stomach	stomach
16	chr1:221205000-221207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:221205000-221207600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:221205000-221208400	Weak transcription	Left Ventricle	heart
19	chr1:221205000-221208400	Enhancers	Hela-S3	cervix
20	chr1:221205000-221209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:221205200-221206200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:221205200-221206200	Weak transcription	K562	blood

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