Variant report

Variant	rs13395948
Chromosome Location	chr2:149031328-149031329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10168627	1.00[AMR][1000 genomes]
rs10169814	1.00[AMR][1000 genomes]
rs10172623	1.00[AMR][1000 genomes]
rs10172638	1.00[AMR][1000 genomes]
rs10174213	1.00[AMR][1000 genomes]
rs10174231	1.00[AMR][1000 genomes]
rs10180813	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10181040	1.00[AMR][1000 genomes]
rs10191867	1.00[AMR][1000 genomes]
rs10195846	1.00[AMR][1000 genomes]
rs10197288	1.00[AMR][1000 genomes]
rs10199661	1.00[AMR][1000 genomes]
rs10211580	1.00[AMR][1000 genomes]
rs13385606	1.00[AMR][1000 genomes]
rs13386143	1.00[AMR][1000 genomes]
rs13387197	1.00[AMR][1000 genomes]
rs13396012	1.00[AMR][1000 genomes]
rs13399551	1.00[AMR][1000 genomes]
rs13401666	1.00[AMR][1000 genomes]
rs13403934	1.00[AMR][1000 genomes]
rs13404496	1.00[AMR][1000 genomes]
rs13404809	1.00[AMR][1000 genomes]
rs13417167	1.00[AMR][1000 genomes]
rs13426527	1.00[AMR][1000 genomes]
rs28647742	1.00[AMR][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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012600-149043400	Weak transcription	Gastric	stomach
2	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:149017200-149038000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:149017400-149033600	Weak transcription	Pancreas	Pancrea
6	chr2:149017400-149037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
8	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
9	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:149017600-149043400	Weak transcription	Fetal Stomach	stomach
11	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:149023600-149039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:149025800-149044600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:149026000-149045000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:149027000-149039200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:149027400-149032600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:149027600-149038000	Weak transcription	GM12878-XiMat	blood
20	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:149029600-149036600	Weak transcription	Esophagus	oesophagus
22	chr2:149030000-149031400	Enhancers	Fetal Intestine Large	intestine
23	chr2:149030200-149031400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:149030200-149031400	Enhancers	HepG2	liver
25	chr2:149030200-149031600	Enhancers	Fetal Kidney	kidney
26	chr2:149030200-149039200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:149030400-149031400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:149030400-149031400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:149030400-149031400	Enhancers	NHLF	lung
30	chr2:149030400-149031600	Enhancers	Osteobl	bone
31	chr2:149030600-149031400	Enhancers	Brain Hippocampus Middle	brain
32	chr2:149030600-149031400	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:149030800-149031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:149030800-149031400	Strong transcription	Adipose Nuclei	Adipose
35	chr2:149030800-149031400	Enhancers	HSMMtube	muscle
36	chr2:149030800-149031600	Strong transcription	Primary T cells from cord blood	blood
37	chr2:149031000-149031400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:149031000-149031400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:149031000-149031400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:149031000-149031400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:149031000-149031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:149031000-149041400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:149031200-149031400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:149031200-149031400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:149031200-149031400	Enhancers	Aorta	Aorta
46	chr2:149031200-149031400	Strong transcription	Left Ventricle	heart
47	chr2:149031200-149031600	Enhancers	A549	lung
48	chr2:149031200-149031600	Enhancers	HSMM	muscle
49	chr2:149031200-149032200	Weak transcription	NH-A	brain

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