Variant report

Variant	rs147656619
Chromosome Location	chr2:172903710-172903711
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172902218..172904158-chr2:172948537..172951197,2	K562	blood:
2	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
3	chr2:172863850..172866643-chr2:172902053..172905217,4	MCF-7	breast:
4	chr2:172903157..172907693-chr2:172948761..172951309,4	MCF-7	breast:
5	chr2:172903155..172905695-chr2:172921268..172923071,2	K562	blood:
6	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
7	chr2:172901825..172905111-chr2:172958470..172962198,5	MCF-7	breast:
8	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
9	chr2:172903508..172905484-chr2:172912161..172915678,3	MCF-7	breast:
10	chr2:172900542..172905634-chr2:172946761..172951890,10	MCF-7	breast:
11	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1798626	chr2:172900948-172909852	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
2	chr2:172902000-172903800	Enhancers	K562	blood
3	chr2:172902400-172904600	Enhancers	Osteobl	bone
4	chr2:172902600-172904400	Enhancers	NHDF-Ad	bronchial
5	chr2:172902600-172904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:172902600-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:172902600-172904600	Enhancers	NHEK	skin
8	chr2:172902800-172903800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:172902800-172904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:172902800-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172903000-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:172903000-172904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:172903200-172904400	Enhancers	HMEC	breast
14	chr2:172903400-172904000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:172903600-172904000	Enhancers	Hela-S3	cervix
16	chr2:172903600-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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