Variant report

Variant	rs12133105
Chromosome Location	chr1:85347961-85347962
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85342133..85343941-chr1:85345825..85348008,2	K562	blood:
2	chr1:85324162..85326847-chr1:85346184..85349176,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10127586	1.00[ASN][1000 genomes]
rs10127852	1.00[ASN][1000 genomes]
rs13374798	1.00[ASN][1000 genomes]
rs1359607	1.00[ASN][1000 genomes]
rs2389787	1.00[ASN][1000 genomes]
rs2389788	1.00[ASN][1000 genomes]
rs35604148	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265445	1.00[ASN][1000 genomes]
rs4400627	1.00[ASN][1000 genomes]
rs72717001	1.00[ASN][1000 genomes]
rs72717002	1.00[ASN][1000 genomes]
rs72718706	1.00[ASN][1000 genomes]
rs72718707	1.00[ASN][1000 genomes]
rs72718708	1.00[ASN][1000 genomes]
rs942683	1.00[ASN][1000 genomes]
rs942684	1.00[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	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:85320600-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85322800-85355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:85327400-85357400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:85331600-85350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:85337800-85348600	Weak transcription	NHDF-Ad	bronchial
7	chr1:85343200-85350600	Weak transcription	Left Ventricle	heart
8	chr1:85343600-85348800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85343600-85348800	Weak transcription	NHLF	lung
10	chr1:85346400-85348000	Enhancers	NHEK	skin
11	chr1:85347000-85354200	Weak transcription	Esophagus	oesophagus
12	chr1:85347400-85348200	Weak transcription	Fetal Heart	heart
13	chr1:85347600-85348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85347600-85348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:85347600-85348600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:85347600-85348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:85347600-85348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:85347600-85350600	Weak transcription	Pancreas	Pancrea
19	chr1:85347800-85348800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:85347800-85349000	Weak transcription	HMEC	breast
21	chr1:85347800-85355800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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