Variant report

Variant	rs34743622
Chromosome Location	chr1:85760353-85760354
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	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11161573	0.81[ASN][1000 genomes]
rs11161585	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161586	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576939	0.85[ASN][1000 genomes]
rs11580090	0.86[ASN][1000 genomes]
rs11583827	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585614	0.88[ASN][1000 genomes]
rs11587512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061305	0.87[ASN][1000 genomes]
rs12061512	0.85[ASN][1000 genomes]
rs12093484	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12405767	0.87[ASN][1000 genomes]
rs12754032	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125445	0.88[ASN][1000 genomes]
rs2012099	0.84[ASN][1000 genomes]
rs4949927	0.85[ASN][1000 genomes]
rs4949928	0.85[ASN][1000 genomes]
rs57483398	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60325409	0.83[ASN][1000 genomes]
rs61771982	0.89[ASN][1000 genomes]
rs6668948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670921	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7554249	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85750000-85761400	Weak transcription	Lung	lung
5	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
6	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
9	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
10	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:85756000-85762800	Enhancers	NHEK	skin
12	chr1:85756400-85762600	Weak transcription	Stomach Mucosa	stomach
13	chr1:85756600-85763200	Weak transcription	GM12878-XiMat	blood
14	chr1:85757000-85762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:85757400-85760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:85757600-85760600	Weak transcription	Osteobl	bone
17	chr1:85757600-85760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:85757600-85760800	Weak transcription	NHDF-Ad	bronchial
19	chr1:85757800-85760600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:85757800-85762400	Weak transcription	HSMM	muscle
21	chr1:85757800-85762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:85758400-85760600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:85758400-85760800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85758400-85761000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:85758600-85763000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:85759000-85763000	Enhancers	HMEC	breast
27	chr1:85759200-85763400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:85759400-85761200	Weak transcription	Spleen	Spleen
29	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:85759800-85760400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:85759800-85763200	Enhancers	NHLF	lung
32	chr1:85759800-85763400	Enhancers	HUVEC	blood vessel
33	chr1:85760000-85761600	Enhancers	NH-A	brain
34	chr1:85760200-85761400	Weak transcription	Esophagus	oesophagus

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