Variant report

Variant	rs547457545
Chromosome Location	chr2:56238774-56238775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv9813	chr2:56237501-56243601	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel
2	chr2:56236400-56242800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:56236600-56239400	Weak transcription	Fetal Stomach	stomach
4	chr2:56236600-56240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:56236600-56240800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:56236600-56245000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:56236800-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:56236800-56241200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:56236800-56241200	Weak transcription	Fetal Lung	lung
10	chr2:56236800-56242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56237000-56239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56237000-56241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:56237000-56241200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:56237000-56241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:56237000-56241200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:56237000-56241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56237000-56242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:56237000-56242800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:56237000-56243000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:56237000-56243000	Weak transcription	Osteobl	bone
21	chr2:56237400-56239400	Weak transcription	A549	lung
22	chr2:56237600-56245400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:56238000-56239400	Weak transcription	Fetal Intestine Large	intestine
24	chr2:56238600-56239200	Weak transcription	Fetal Kidney	kidney
25	chr2:56238600-56242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:56238600-56242800	Weak transcription	Pancreas	Pancrea
27	chr2:56238600-56244800	Weak transcription	Hela-S3	cervix

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