Variant report

Variant	rs12143480
Chromosome Location	chr1:85356243-85356244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11161481	0.80[EUR][1000 genomes]
rs11161483	0.80[EUR][1000 genomes]
rs11161484	0.80[EUR][1000 genomes]
rs12064236	0.80[EUR][1000 genomes]
rs12087537	0.80[EUR][1000 genomes]
rs12117396	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12118254	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12119634	0.83[EUR][1000 genomes]
rs12121228	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12137331	1.00[AFR][1000 genomes]
rs12139037	0.83[AMR][1000 genomes]
rs12139520	0.80[EUR][1000 genomes]
rs12140503	0.80[EUR][1000 genomes]
rs12141138	0.80[EUR][1000 genomes]
rs12141913	0.80[EUR][1000 genomes]
rs12143210	0.80[EUR][1000 genomes]
rs12143551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12728965	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12729681	0.87[EUR][1000 genomes]
rs12756401	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12756966	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34448848	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35085075	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35386532	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36119952	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6664563	0.80[EUR][1000 genomes]
rs6685090	0.80[EUR][1000 genomes]
rs71652684	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7513686	0.80[EUR][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:28 , 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	chr1:85327400-85357400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:85348400-85357200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:85351000-85358200	Weak transcription	Lung	lung
5	chr1:85351400-85357200	Weak transcription	Pancreas	Pancrea
6	chr1:85351400-85358000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:85352800-85356400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85353800-85358000	Weak transcription	NHDF-Ad	bronchial
9	chr1:85354400-85358600	Enhancers	Fetal Heart	heart
10	chr1:85354600-85357600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:85354800-85357600	Weak transcription	Spleen	Spleen
12	chr1:85354800-85358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:85354800-85358200	Weak transcription	Esophagus	oesophagus
14	chr1:85355000-85358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:85355000-85358000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:85355000-85358200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:85355000-85358400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:85355200-85358000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:85355200-85358200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:85355600-85357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:85355800-85356600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:85355800-85356600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:85355800-85356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:85356000-85356600	Weak transcription	HMEC	breast
25	chr1:85356000-85357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:85356000-85358000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:85356200-85356400	Enhancers	NHEK	skin
28	chr1:85356200-85356600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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