Variant report

Variant	rs9973856
Chromosome Location	chr2:160977694-160977695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10171644	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10184041	0.95[EUR][1000 genomes]
rs10193774	0.92[EUR][1000 genomes]
rs10197183	0.95[EUR][1000 genomes]
rs10205374	0.95[EUR][1000 genomes]
rs11890075	0.89[ASN][1000 genomes]
rs11896610	0.95[EUR][1000 genomes]
rs12469192	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12470622	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12477682	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12478021	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12616323	0.95[EUR][1000 genomes]
rs13390820	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13394453	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13401953	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13403826	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13413256	0.95[EUR][1000 genomes]
rs13413895	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13426637	0.95[EUR][1000 genomes]
rs13429856	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13432255	0.86[ASN][1000 genomes]
rs13432522	0.89[ASN][1000 genomes]
rs1457239	0.95[EUR][1000 genomes]
rs16844830	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2124971	0.95[EUR][1000 genomes]
rs2168672	0.95[EUR][1000 genomes]
rs2290706	0.95[EUR][1000 genomes]
rs34761275	0.89[ASN][1000 genomes]
rs3755547	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4337434	0.89[ASN][1000 genomes]
rs4473342	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4630719	0.95[EUR][1000 genomes]
rs56011055	0.95[EUR][1000 genomes]
rs57594443	0.95[EUR][1000 genomes]
rs59236613	0.87[ASN][1000 genomes]
rs61377083	0.87[ASN][1000 genomes]
rs62175554	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6432594	0.89[ASN][1000 genomes]
rs6432609	0.95[EUR][1000 genomes]
rs6730023	0.95[EUR][1000 genomes]
rs6735425	0.87[ASN][1000 genomes]
rs6747699	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6758074	0.89[ASN][1000 genomes]
rs6760500	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs72994790	0.95[EUR][1000 genomes]
rs7563802	0.95[EUR][1000 genomes]
rs7572338	0.95[EUR][1000 genomes]
rs7586660	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590004	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7596372	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7599127	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7603920	0.89[EUR][1000 genomes]
rs7608557	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:160957400-160981200	Weak transcription	Lung	lung
3	chr2:160959200-161004200	Weak transcription	Gastric	stomach
4	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
5	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
6	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:160966400-160980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:160967200-160979000	Weak transcription	HSMM	muscle
10	chr2:160969000-160983000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:160969200-160982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:160970800-160978200	Weak transcription	NHEK	skin
13	chr2:160971000-160982200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:160971000-160993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:160972000-160978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:160976600-160979000	Enhancers	Dnd41	blood
19	chr2:160977400-160988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:160977600-160988800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:160977600-160989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:160977600-160989600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:160977600-160989600	Strong transcription	HMEC	breast

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