Variant report

Variant	rs62111433
Chromosome Location	chr2:20433443-20433444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20252625..20255619-chr2:20431730..20433966,2	MCF-7	breast:
2	chr2:20431635..20433963-chr2:20446751..20449064,2	MCF-7	breast:
3	chr2:20432714..20434478-chr2:20437941..20440524,2	MCF-7	breast:
4	chr2:20432388..20434846-chr2:20442190..20444125,2	MCF-7	breast:
5	chr2:20300369..20303595-chr2:20430836..20433984,3	MCF-7	breast:
6	chr2:20309126..20310767-chr2:20432365..20434284,2	MCF-7	breast:
7	chr2:20431028..20433997-chr2:20444400..20446017,2	MCF-7	breast:
8	chr2:20430017..20433569-chr2:20434113..20437840,4	MCF-7	breast:
9	chr2:20308045..20309593-chr2:20432810..20434500,2	MCF-7	breast:
10	chr2:20304168..20306715-chr2:20431086..20434416,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10495704	0.92[ASN][1000 genomes]
rs1106111	0.90[ASN][1000 genomes]
rs11096648	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11096649	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11096650	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12373772	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12373819	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464428	0.90[ASN][1000 genomes]
rs12472685	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13393733	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13415389	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002090	0.90[ASN][1000 genomes]
rs2007340	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072464	0.82[AMR][1000 genomes]
rs34678899	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3732162	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3732163	0.84[ASN][1000 genomes]
rs3732164	0.84[ASN][1000 genomes]
rs3755300	0.86[ASN][1000 genomes]
rs3771227	0.85[ASN][1000 genomes]
rs3771229	0.90[ASN][1000 genomes]
rs3771232	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3771233	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3771236	0.86[ASN][1000 genomes]
rs3771238	0.84[ASN][1000 genomes]
rs3771239	0.84[ASN][1000 genomes]
rs3771240	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3771241	0.84[ASN][1000 genomes]
rs3771243	0.87[ASN][1000 genomes]
rs3771244	0.84[ASN][1000 genomes]
rs3771246	0.84[ASN][1000 genomes]
rs3821219	0.85[ASN][1000 genomes]
rs57938873	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59129757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109740	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123442	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72785203	0.90[ASN][1000 genomes]
rs72785204	0.90[ASN][1000 genomes]
rs72785206	0.90[ASN][1000 genomes]
rs72785217	0.84[AMR][1000 genomes]
rs72785218	0.84[AMR][1000 genomes]
rs72785278	0.82[AMR][1000 genomes]
rs72785282	0.81[AMR][1000 genomes]
rs7563245	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7585590	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7595266	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20426200-20436600	Weak transcription	Pancreas	Pancrea
3	chr2:20426400-20436800	Enhancers	Placenta	Placenta
4	chr2:20431400-20435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
6	chr2:20431600-20435400	Weak transcription	Colonic Mucosa	Colon
7	chr2:20431600-20435600	Weak transcription	Gastric	stomach
8	chr2:20431600-20440600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:20431800-20433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:20431800-20435400	Weak transcription	Esophagus	oesophagus
11	chr2:20431800-20435600	Weak transcription	Lung	lung
12	chr2:20431800-20444200	Weak transcription	A549	lung
13	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:20432000-20435600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:20432000-20437200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:20432600-20435400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:20432600-20435400	Weak transcription	Stomach Mucosa	stomach
18	chr2:20432600-20435800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:20432600-20436600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:20432800-20435600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:20432800-20435600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:20432800-20436400	Enhancers	HMEC	breast
23	chr2:20432800-20436400	Enhancers	NHEK	skin
24	chr2:20433000-20433800	Weak transcription	Hela-S3	cervix
25	chr2:20433000-20436600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:20433000-20440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:20433000-20441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:20433400-20435600	Weak transcription	Placenta Amnion	Placenta Amnion

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