Variant report

Variant	rs532053995
Chromosome Location	chr2:40479225-40479226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873913	chr2:40469705-40485074	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3406907	chr2:40479198-40481346	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40472600-40487200	Weak transcription	HSMM	muscle
6	chr2:40475800-40480000	Enhancers	Fetal Heart	heart
7	chr2:40475800-40485400	Weak transcription	Right Atrium	heart
8	chr2:40477800-40479400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:40477800-40479600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:40477800-40479800	Enhancers	Fetal Intestine Small	intestine
11	chr2:40477800-40479800	Enhancers	Stomach Mucosa	stomach
12	chr2:40478000-40479400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:40478000-40479600	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:40478000-40479800	Enhancers	Fetal Intestine Large	intestine
15	chr2:40478400-40479800	Enhancers	Left Ventricle	heart
16	chr2:40478600-40481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:40478600-40487000	Weak transcription	Hela-S3	cervix
18	chr2:40478800-40481400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:40478800-40482000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:40478800-40482200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:40478800-40496600	Weak transcription	Right Ventricle	heart
22	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:40479000-40479400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:40479000-40487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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