Variant report

Variant	rs45493094
Chromosome Location	chr2:31602223-31602224
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10181969	0.93[EUR][1000 genomes]
rs17011353	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17011359	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4407290	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs45466195	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45491696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523133	0.83[AMR][1000 genomes]
rs45532634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45575032	0.83[AMR][1000 genomes]
rs45576138	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31579200-31605400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:31585800-31604600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
7	chr2:31586400-31604400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:31589000-31604400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:31591400-31604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:31594600-31604200	Weak transcription	Placenta	Placenta
11	chr2:31595000-31606000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:31595200-31604800	Weak transcription	Stomach Mucosa	stomach
13	chr2:31595400-31603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:31595400-31605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:31599600-31604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:31600000-31602600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:31600400-31602800	Genic enhancers	Liver	Liver
20	chr2:31600600-31603000	Genic enhancers	Fetal Intestine Small	intestine
21	chr2:31600600-31604400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:31600600-31608000	Weak transcription	Esophagus	oesophagus
23	chr2:31601000-31603000	Genic enhancers	Fetal Intestine Large	intestine
24	chr2:31601200-31603200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:31601200-31603600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:31601400-31602800	Genic enhancers	HMEC	breast
27	chr2:31601600-31602800	Genic enhancers	NHEK	skin
28	chr2:31601800-31603000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:31602000-31606000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:31602200-31605200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:31602200-31613400	Strong transcription	Duodenum Mucosa	Duodenum

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