Variant report

Variant	rs2273452
Chromosome Location	chr2:31637363-31637364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31636957..31637459-chr2:31650773..31651525,2	MCF-7	breast:
2	chr2:31636539..31637492-chr2:31657533..31658134,3	MCF-7	breast:
3	chr2:31636647..31637404-chr2:31748707..31749593,5	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28383029	1.00[AMR][1000 genomes]
rs28383033	1.00[AMR][1000 genomes]
rs28383035	1.00[AMR][1000 genomes]
rs28383057	1.00[AMR][1000 genomes]
rs28383058	1.00[AMR][1000 genomes]
rs28383061	1.00[AMR][1000 genomes]
rs28383083	1.00[AMR][1000 genomes]
rs28383086	1.00[AMR][1000 genomes]
rs28745286	1.00[AMR][1000 genomes]
rs28745292	1.00[AMR][1000 genomes]
rs45497200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45503198	0.86[EUR][1000 genomes]
rs45519736	1.00[ASN][1000 genomes]
rs45528140	1.00[ASN][1000 genomes]
rs45566738	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:31634400-31638000	Active TSS	Fetal Intestine Large	intestine
3	chr2:31634600-31637800	Active TSS	Duodenum Mucosa	Duodenum
4	chr2:31634600-31637800	Active TSS	Fetal Intestine Small	intestine
5	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:31635600-31638200	Flanking Active TSS	NHEK	skin
7	chr2:31636200-31638200	Flanking Active TSS	HMEC	breast
8	chr2:31636200-31638800	Enhancers	NHDF-Ad	bronchial
9	chr2:31636400-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:31636400-31637600	Weak transcription	NHLF	lung
11	chr2:31636600-31637600	Active TSS	Colonic Mucosa	Colon
12	chr2:31636600-31637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:31636600-31638000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:31636600-31638200	Enhancers	Placenta	Placenta
15	chr2:31636800-31637400	Active TSS	Liver	Liver
16	chr2:31636800-31637600	Enhancers	A549	lung
17	chr2:31637000-31638400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:31637000-31638400	Enhancers	Hela-S3	cervix
19	chr2:31637200-31637600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:31637200-31637600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:31637200-31637600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:31637200-31637600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:31637200-31637600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr2:31637200-31637600	Flanking Active TSS	Stomach Mucosa	stomach
25	chr2:31637200-31638000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:31637200-31638000	Enhancers	Esophagus	oesophagus
27	chr2:31637200-31638200	Enhancers	Pancreas	Pancrea
28	chr2:31637200-31638200	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:31637200-31638800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:31637200-31638800	Enhancers	Gastric	stomach
31	chr2:31637200-31639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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