Variant report

Variant	rs538080857
Chromosome Location	chr2:145440834-145440835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145264141..145265822-chr2:145439958..145442290,2	K562	blood:
2	chr2:145440158..145443072-chr2:145446990..145449135,3	K562	blood:
3	chr2:145274672..145276800-chr2:145439979..145441648,2	K562	blood:
4	chr2:145440158..145446045-chr2:145446990..145450479,6	K562	blood:
5	chr2:145420530..145423010-chr2:145438909..145441021,2	K562	blood:
6	chr2:145436622..145438184-chr2:145439926..145441504,2	K562	blood:
7	chr2:145440137..145441747-chr2:145541238..145543975,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction
ENSG00000234940	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145438400-145441000	Enhancers	NHEK	skin
2	chr2:145438600-145441000	Enhancers	HMEC	breast
3	chr2:145438800-145452800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:145439400-145442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145440000-145441200	Enhancers	Fetal Lung	lung
6	chr2:145440000-145441600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:145440000-145441600	Enhancers	Ovary	ovary
8	chr2:145440000-145442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:145440000-145442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:145440200-145442200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:145440400-145441800	Enhancers	K562	blood
12	chr2:145440600-145441000	Enhancers	Fetal Stomach	stomach
13	chr2:145440600-145441000	Enhancers	Right Atrium	heart
14	chr2:145440600-145441800	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:145440600-145441800	Enhancers	Adipose Nuclei	Adipose
16	chr2:145440600-145441800	Enhancers	Colon Smooth Muscle	Colon
17	chr2:145440600-145442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:145440600-145442200	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:145440800-145441600	Enhancers	Aorta	Aorta
20	chr2:145440800-145441600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:145440800-145442000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:145440800-145442000	Enhancers	Fetal Kidney	kidney
23	chr2:145440800-145442600	Enhancers	Primary neutrophils fromperipheralblood	blood

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