Variant report

Variant	rs10432369
Chromosome Location	chr2:148982641-148982642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10206569	0.82[ASN][1000 genomes]
rs10210377	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10928388	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10928389	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10928390	0.82[ASN][1000 genomes]
rs1120671	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11675979	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676308	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11678688	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11683219	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11685302	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11692246	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053104	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12470061	0.83[EUR][1000 genomes]
rs12691780	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12691781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027785	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13032996	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13392141	0.82[ASN][1000 genomes]
rs13425594	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1449960	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1453318	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17274896	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17276501	0.81[EUR][1000 genomes]
rs1869341	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2044760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044761	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2084954	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167127	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602358	0.82[EUR][1000 genomes]
rs2656319	0.82[EUR][1000 genomes]
rs2656320	0.82[EUR][1000 genomes]
rs2656324	0.82[EUR][1000 genomes]
rs2839755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890917	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35042809	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35749985	0.81[ASN][1000 genomes]
rs4399670	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972276	0.81[ASN][1000 genomes]
rs4972277	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4972278	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972338	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4972341	0.82[ASN][1000 genomes]
rs4972347	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972355	0.83[EUR][1000 genomes]
rs6430305	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6721794	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6746932	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570104	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949679	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs961207	0.89[EUR][1000 genomes]
rs987625	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs987626	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148928600-148993600	Weak transcription	HSMM	muscle
2	chr2:148931200-148993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:148944000-148987400	Weak transcription	Ovary	ovary
4	chr2:148959200-148987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:148959400-148987000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:148959400-148993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:148959600-148986800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:148966000-148994400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:148972400-148993000	Weak transcription	NHDF-Ad	bronchial
10	chr2:148977000-148992000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:148979000-148988400	Weak transcription	Left Ventricle	heart
12	chr2:148979800-148987200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:148980200-148993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:148981400-148996600	Weak transcription	Psoas Muscle	Psoas
15	chr2:148982600-148993600	Weak transcription	Rectal Mucosa Donor 31	rectum

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