Variant report

Variant	rs10188956
Chromosome Location	chr2:149052793-149052794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10153599	0.89[AMR][1000 genomes]
rs10168750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10177233	1.00[AMR][1000 genomes]
rs10208949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10928387	1.00[AMR][1000 genomes]
rs10928392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11692197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12472437	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12691783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1377455	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1453316	0.86[AFR][1000 genomes]
rs1470862	1.00[AMR][1000 genomes]
rs1542323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869342	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1992989	1.00[AMR][1000 genomes]
rs2034672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2123617	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167881	0.81[AMR][1000 genomes]
rs2167882	1.00[AMR][1000 genomes]
rs2219066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2890919	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4972339	1.00[AMR][1000 genomes]
rs4972340	1.00[AMR][1000 genomes]
rs4972344	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4972350	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972351	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55721902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6430307	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709521	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6722460	1.00[AMR][1000 genomes]
rs6725093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726373	1.00[AMR][1000 genomes]
rs7424220	1.00[AMR][1000 genomes]
rs7569947	1.00[AMR][1000 genomes]
rs7572485	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7573171	1.00[AMR][1000 genomes]
rs7588000	0.89[AMR][1000 genomes]
rs7602337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
3	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
8	chr2:149031600-149055200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:149041600-149058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:149042200-149070600	Weak transcription	Ovary	ovary
11	chr2:149042600-149057600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:149042800-149058000	Weak transcription	HSMM	muscle
13	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:149045600-149055600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:149046800-149055400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:149050600-149062600	Weak transcription	Fetal Stomach	stomach
19	chr2:149050800-149056400	Weak transcription	Thymus	Thymus

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