Variant report

Variant	rs530048314
Chromosome Location	chr2:56071392-56071393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
3	esv3457758	chr2:56071022-56071478	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3457761	chr2:56071024-56071471	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3457759	chr2:56071040-56071428	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3433722	chr2:56071069-56071417	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3457760	chr2:56071094-56071402	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3457763	chr2:56071108-56071399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:31 , 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	chr2:56068800-56071400	Enhancers	Fetal Intestine Small	intestine
5	chr2:56068800-56072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:56068800-56072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:56068800-56072000	Enhancers	Osteobl	bone
8	chr2:56069000-56071400	Enhancers	Fetal Intestine Large	intestine
9	chr2:56069000-56071600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:56069000-56071600	Enhancers	NHDF-Ad	bronchial
11	chr2:56069000-56071600	Enhancers	NHLF	lung
12	chr2:56069000-56072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:56069200-56071400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:56069200-56071400	Enhancers	HSMM	muscle
15	chr2:56069200-56071600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:56069200-56071600	Enhancers	NHEK	skin
17	chr2:56069200-56071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56069800-56071400	Enhancers	Fetal Lung	lung
19	chr2:56069800-56071400	Enhancers	NH-A	brain
20	chr2:56070200-56071400	Enhancers	HMEC	breast
21	chr2:56070200-56073000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:56070400-56071600	Enhancers	Stomach Mucosa	stomach
23	chr2:56070400-56072000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:56070600-56071400	Enhancers	Liver	Liver
25	chr2:56070600-56073000	Weak transcription	Pancreas	Pancrea
26	chr2:56070600-56075400	Weak transcription	HUVEC	blood vessel
27	chr2:56070600-56078400	Weak transcription	Ovary	ovary
28	chr2:56070800-56071400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:56070800-56071800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:56071200-56071600	Enhancers	Hela-S3	cervix
31	chr2:56071200-56072000	Weak transcription	Adipose Nuclei	Adipose

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