Variant report

Variant	rs973129
Chromosome Location	chr2:20332942-20332943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20331753..20338544-chr2:20423396..20426851,7	MCF-7	breast:
2	chr2:20248673..20250285-chr2:20331318..20334095,2	K562	blood:
3	chr2:20332851..20335555-chr2:20339124..20341592,3	K562	blood:
4	chr2:20318146..20319802-chr2:20331839..20334216,2	MCF-7	breast:
5	chr2:20332825..20334861-chr2:20412416..20414197,2	MCF-7	breast:
6	chr2:20328337..20331162-chr2:20332733..20334257,2	K562	blood:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11678155	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4666366	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666368	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6531209	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563386	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:20326400-20334800	Weak transcription	Esophagus	oesophagus
2	chr2:20326400-20336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20329800-20333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:20331000-20334000	Weak transcription	Stomach Mucosa	stomach
5	chr2:20331000-20335000	Weak transcription	Liver	Liver
6	chr2:20331000-20335600	Weak transcription	NHEK	skin
7	chr2:20331200-20333000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20331200-20334800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20331200-20335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:20331200-20335400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:20331200-20335800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:20331400-20335600	Weak transcription	Fetal Lung	lung
13	chr2:20331600-20334000	Weak transcription	HMEC	breast
14	chr2:20331600-20337000	Weak transcription	Colonic Mucosa	Colon
15	chr2:20331800-20335600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:20331800-20338600	Weak transcription	Small Intestine	intestine
17	chr2:20332000-20335600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20332800-20333000	Enhancers	Fetal Kidney	kidney
20	chr2:20332800-20333000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:20332800-20333200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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