Variant report

Variant	rs578068959
Chromosome Location	chr2:149038285-149038286
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:27 , 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	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
4	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
5	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:149017600-149043400	Weak transcription	Fetal Stomach	stomach
7	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:149023600-149039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:149025800-149044600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:149026000-149045000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:149027000-149039200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:149030200-149039200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:149031000-149041400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:149031400-149039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:149031400-149040400	Weak transcription	Aorta	Aorta
19	chr2:149031400-149042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
21	chr2:149031600-149046200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:149031600-149055200	Weak transcription	Primary T cells from cord blood	blood
23	chr2:149036600-149047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:149037200-149038400	Enhancers	Dnd41	blood
25	chr2:149037200-149039400	Weak transcription	NHDF-Ad	bronchial
26	chr2:149037200-149041200	Weak transcription	HepG2	liver
27	chr2:149038000-149038400	Enhancers	Primary B cells from cord blood	blood

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