Variant report

Variant	rs185330517
Chromosome Location	chr2:56070974-56070975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56070321..56072197-chr2:56112589..56114898,2	MCF-7	breast:
2	chr2:56066504..56070179-chr2:56070783..56074906,3	MCF-7	breast:
3	chr2:56068913..56070987-chr2:56145608..56147872,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3457762	chr2:56070968-56071509	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:56068600-56071400	Flanking Active TSS	A549	lung
3	chr2:56068600-56071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:56068800-56071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:56068800-56071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:56068800-56071400	Enhancers	Fetal Intestine Small	intestine
7	chr2:56068800-56072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:56068800-56072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:56068800-56072000	Enhancers	Osteobl	bone
10	chr2:56069000-56071000	Enhancers	HepG2	liver
11	chr2:56069000-56071200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:56069000-56071400	Enhancers	Fetal Intestine Large	intestine
13	chr2:56069000-56071600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:56069000-56071600	Enhancers	NHDF-Ad	bronchial
15	chr2:56069000-56071600	Enhancers	NHLF	lung
16	chr2:56069000-56072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56069200-56071400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:56069200-56071400	Enhancers	HSMM	muscle
19	chr2:56069200-56071600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:56069200-56071600	Enhancers	NHEK	skin
21	chr2:56069200-56071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:56069800-56071000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:56069800-56071400	Enhancers	Fetal Lung	lung
24	chr2:56069800-56071400	Enhancers	NH-A	brain
25	chr2:56070000-56071000	Enhancers	Fetal Kidney	kidney
26	chr2:56070000-56071200	Enhancers	HSMMtube	muscle
27	chr2:56070200-56071200	Flanking Active TSS	Hela-S3	cervix
28	chr2:56070200-56071400	Enhancers	HMEC	breast
29	chr2:56070200-56073000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:56070400-56071600	Enhancers	Stomach Mucosa	stomach
31	chr2:56070400-56072000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:56070600-56071200	Enhancers	Adipose Nuclei	Adipose
33	chr2:56070600-56071400	Enhancers	Liver	Liver
34	chr2:56070600-56073000	Weak transcription	Pancreas	Pancrea
35	chr2:56070600-56075400	Weak transcription	HUVEC	blood vessel
36	chr2:56070600-56078400	Weak transcription	Ovary	ovary
37	chr2:56070800-56071400	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:56070800-56071800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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