Variant report

Variant	rs72922494
Chromosome Location	chr2:56069540-56069541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56004031..56006518-chr2:56068498..56070427,2	MCF-7	breast:
2	chr2:56068913..56070987-chr2:56145608..56147872,2	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:
5	chr2:55843068..55844575-chr2:56068438..56069941,2	MCF-7	breast:

Variant related genes	Relation type
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]
rs17047273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2903836	1.00[AMR][1000 genomes]
rs6715632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72922491	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72924519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560742	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56064800-56070200	Weak transcription	K562	blood
2	chr2:56066600-56069600	Weak transcription	Small Intestine	intestine
3	chr2:56066800-56069600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:56066800-56069800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56066800-56070600	Weak transcription	Liver	Liver
6	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:56067600-56070000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:56067600-56070000	Weak transcription	HSMMtube	muscle
9	chr2:56067600-56070200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:56067800-56070200	Weak transcription	HMEC	breast
11	chr2:56068400-56069600	Enhancers	Pancreas	Pancrea
12	chr2:56068400-56070200	Enhancers	Hela-S3	cervix
13	chr2:56068600-56070000	Enhancers	Stomach Mucosa	stomach
14	chr2:56068600-56071400	Flanking Active TSS	A549	lung
15	chr2:56068600-56071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:56068800-56070400	Enhancers	Placenta	Placenta
17	chr2:56068800-56071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:56068800-56071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:56068800-56071400	Enhancers	Fetal Intestine Small	intestine
20	chr2:56068800-56072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:56068800-56072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:56068800-56072000	Enhancers	Osteobl	bone
23	chr2:56069000-56071000	Enhancers	HepG2	liver
24	chr2:56069000-56071200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:56069000-56071400	Enhancers	Fetal Intestine Large	intestine
26	chr2:56069000-56071600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56069000-56071600	Enhancers	NHDF-Ad	bronchial
28	chr2:56069000-56071600	Enhancers	NHLF	lung
29	chr2:56069000-56072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:56069200-56070000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:56069200-56070200	Weak transcription	Gastric	stomach
32	chr2:56069200-56071400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:56069200-56071400	Enhancers	HSMM	muscle
34	chr2:56069200-56071600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:56069200-56071600	Enhancers	NHEK	skin
36	chr2:56069200-56071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:56069400-56070600	Weak transcription	Adipose Nuclei	Adipose

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