Variant report

Variant	rs2656324
Chromosome Location	chr2:149070920-149070921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10196090	0.86[EUR][1000 genomes]
rs10208839	0.84[EUR][1000 genomes]
rs10432369	0.82[EUR][1000 genomes]
rs11675979	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676308	0.82[EUR][1000 genomes]
rs11678688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11683219	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692246	0.82[EUR][1000 genomes]
rs12053104	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12470061	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478120	0.82[EUR][1000 genomes]
rs12618358	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13001946	0.82[EUR][1000 genomes]
rs13022005	0.82[EUR][1000 genomes]
rs1453317	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1453318	0.84[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs1580063	0.97[ASN][1000 genomes]
rs17274896	0.82[EUR][1000 genomes]
rs17276501	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1869341	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167880	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602352	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2602358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2656317	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2656319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656325	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839755	0.82[EUR][1000 genomes]
rs28831467	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2938705	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35177340	0.81[ASN][1000 genomes]
rs4972277	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972278	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972347	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972355	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972358	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62183965	0.81[ASN][1000 genomes]
rs6734448	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746932	0.82[EUR][1000 genomes]
rs7572948	0.82[EUR][1000 genomes]
rs7592019	0.86[EUR][1000 genomes]
rs869595	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs949679	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987625	0.82[EUR][1000 genomes]
rs987626	0.82[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	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
2	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
3	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
4	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:38 , 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	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
3	chr2:149055200-149072400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
5	chr2:149058600-149076400	Weak transcription	Aorta	Aorta
6	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:149063400-149080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:149063800-149073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:149064000-149071200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:149067200-149095800	Weak transcription	HSMM	muscle
12	chr2:149068400-149073200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:149069000-149075600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:149069200-149096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:149069400-149077800	Weak transcription	Gastric	stomach
16	chr2:149069400-149096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:149069600-149075600	Weak transcription	Spleen	Spleen
19	chr2:149069800-149076400	Weak transcription	Right Ventricle	heart
20	chr2:149070200-149071400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:149070200-149071400	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:149070400-149071000	Strong transcription	Pancreas	Pancrea
23	chr2:149070400-149071200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:149070400-149071400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:149070400-149071400	Strong transcription	Fetal Intestine Small	intestine
26	chr2:149070400-149071400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr2:149070400-149071600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:149070400-149075600	Weak transcription	Fetal Lung	lung
29	chr2:149070600-149071000	ZNF genes & repeats	Thymus	Thymus
30	chr2:149070600-149071200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:149070600-149071200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:149070600-149071200	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr2:149070600-149071200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:149070600-149071400	Strong transcription	Ovary	ovary
35	chr2:149070600-149072400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:149070600-149072800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:149070800-149071400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:149070800-149071800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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