Variant report

Variant	rs2382238
Chromosome Location	chr2:149218116-149218117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10803526	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12691796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12691797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1404182	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1979037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979038	0.83[EUR][1000 genomes]
rs1979039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1983449	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1983450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4246608	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972363	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972364	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972365	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv518198	chr2:149210869-149219983	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149174200-149221400	Weak transcription	Primary T cells from cord blood	blood
2	chr2:149174400-149221400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:149193400-149221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:149198600-149221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:149198600-149226000	Weak transcription	HSMM	muscle
7	chr2:149208400-149219400	Weak transcription	Aorta	Aorta
8	chr2:149208800-149221400	Weak transcription	Ovary	ovary
9	chr2:149208800-149226200	Weak transcription	Fetal Brain Male	brain
10	chr2:149209600-149230200	Weak transcription	Small Intestine	intestine
11	chr2:149210800-149221800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:149210800-149227800	Weak transcription	HUVEC	blood vessel
13	chr2:149211600-149221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:149212000-149221400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:149212200-149225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:149214000-149227800	Weak transcription	HepG2	liver
17	chr2:149214200-149221400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:149214200-149225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:149214200-149226000	Weak transcription	Placenta	Placenta
20	chr2:149214400-149226000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:149214600-149228600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:149214800-149221400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:149214800-149221400	Weak transcription	Fetal Thymus	thymus
24	chr2:149214800-149225800	Weak transcription	Thymus	Thymus
25	chr2:149214800-149226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:149214800-149226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:149215000-149246800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:149215400-149226000	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:149215800-149226000	Weak transcription	Right Ventricle	heart
30	chr2:149216000-149224600	Weak transcription	Esophagus	oesophagus
31	chr2:149216200-149219400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:149216400-149221400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:149216400-149225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:149216400-149226000	Weak transcription	Left Ventricle	heart
35	chr2:149216600-149219400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:149216600-149221800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:149216600-149225600	Weak transcription	Psoas Muscle	Psoas
38	chr2:149216600-149226000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:149216600-149226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:149216600-149226600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:149217000-149222600	Weak transcription	Osteobl	bone
42	chr2:149217000-149228800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:149217200-149226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:149217200-149231600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:149217400-149221400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:149217400-149226600	Weak transcription	Fetal Heart	heart
47	chr2:149217600-149225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:149217800-149232600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links