Variant report

Variant	rs56188784
Chromosome Location	chr2:56067895-56067896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55843287..55845090-chr2:56066305..56068048,2	MCF-7	breast:
2	chr2:56036866..56038749-chr2:56067694..56069314,2	MCF-7	breast:
3	chr2:56066504..56070179-chr2:56070783..56074906,3	MCF-7	breast:
4	chr2:56067724..56069716-chr2:56075621..56077306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3791673	0.87[AFR][1000 genomes]
rs55818621	0.83[AFR][1000 genomes]
rs56358948	0.87[AFR][1000 genomes]
rs59265286	0.83[AFR][1000 genomes]
rs60772612	0.83[AFR][1000 genomes]
rs72807772	0.83[AFR][1000 genomes]
rs72807773	0.83[AFR][1000 genomes]
rs72807774	0.83[AFR][1000 genomes]
rs72807775	0.83[AFR][1000 genomes]
rs73940332	0.95[AFR][1000 genomes]
rs73940335	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56064200-56069400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:56064800-56068800	Weak transcription	Gastric	stomach
3	chr2:56064800-56070200	Weak transcription	K562	blood
4	chr2:56066600-56069600	Weak transcription	Small Intestine	intestine
5	chr2:56066800-56069000	Weak transcription	NHLF	lung
6	chr2:56066800-56069200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56066800-56069600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:56066800-56069800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56066800-56070600	Weak transcription	Liver	Liver
10	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:56067000-56068200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:56067000-56069000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:56067200-56068400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:56067200-56068600	Weak transcription	Stomach Mucosa	stomach
15	chr2:56067200-56068800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:56067200-56068800	Weak transcription	Placenta	Placenta
17	chr2:56067200-56068800	Weak transcription	Osteobl	bone
18	chr2:56067400-56068000	Enhancers	NHEK	skin
19	chr2:56067400-56068400	Weak transcription	Pancreas	Pancrea
20	chr2:56067400-56068400	Weak transcription	Hela-S3	cervix
21	chr2:56067400-56068800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:56067400-56069000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:56067400-56069200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:56067400-56069200	Weak transcription	HSMM	muscle
25	chr2:56067600-56068600	Enhancers	A549	lung
26	chr2:56067600-56068800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:56067600-56070000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:56067600-56070000	Weak transcription	HSMMtube	muscle
29	chr2:56067600-56070200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:56067800-56069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:56067800-56070200	Weak transcription	HMEC	breast

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