Variant report

Variant	rs72785217
Chromosome Location	chr2:20437384-20437385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20436145..20438104-chr2:20443215..20445387,2	MCF-7	breast:
2	chr2:20429918..20432803-chr2:20436063..20439254,4	MCF-7	breast:
3	chr2:20430017..20433569-chr2:20434113..20437840,4	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10175853	0.88[ASN][1000 genomes]
rs10187080	0.91[ASN][1000 genomes]
rs10192042	0.88[ASN][1000 genomes]
rs10206974	0.85[ASN][1000 genomes]
rs1043400	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460445	0.88[ASN][1000 genomes]
rs10460449	0.88[ASN][1000 genomes]
rs10460450	0.88[ASN][1000 genomes]
rs10460451	0.86[ASN][1000 genomes]
rs10495704	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10856797	0.91[ASN][1000 genomes]
rs11096650	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11096654	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11888357	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895228	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11896241	0.89[ASN][1000 genomes]
rs11900127	0.89[ASN][1000 genomes]
rs11902769	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903745	0.89[ASN][1000 genomes]
rs12373772	0.81[AMR][1000 genomes]
rs12373819	0.83[AMR][1000 genomes]
rs12465832	0.88[ASN][1000 genomes]
rs12472685	0.99[ASN][1000 genomes]
rs12473500	0.87[ASN][1000 genomes]
rs12474897	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12478265	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13393733	0.99[ASN][1000 genomes]
rs13415389	0.83[AMR][1000 genomes]
rs17612703	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072464	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110410	0.86[EUR][1000 genomes]
rs2348703	0.89[ASN][1000 genomes]
rs34678899	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3796066	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821218	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57938873	0.83[AMR][1000 genomes]
rs59129757	0.83[AMR][1000 genomes]
rs62109740	0.83[AMR][1000 genomes]
rs62111433	0.84[AMR][1000 genomes]
rs62123442	0.99[ASN][1000 genomes]
rs6748274	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785218	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785278	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785282	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785295	0.84[EUR][1000 genomes]
rs72785297	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785298	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785300	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785301	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787406	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787409	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787411	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72787415	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787433	0.89[ASN][1000 genomes]
rs72787499	0.88[ASN][1000 genomes]
rs72787501	0.88[ASN][1000 genomes]
rs72788905	0.88[ASN][1000 genomes]
rs741188	0.83[EUR][1000 genomes]
rs7558385	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558833	0.88[ASN][1000 genomes]
rs7563245	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7582642	0.88[ASN][1000 genomes]
rs7595266	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306890	0.88[ASN][1000 genomes]
rs9306891	0.87[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431600-20440600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20431800-20444200	Weak transcription	A549	lung
5	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20433000-20440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:20433000-20441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:20436600-20452600	Weak transcription	Gastric	stomach
13	chr2:20436800-20437400	Enhancers	NHEK	skin
14	chr2:20436800-20437600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:20436800-20438200	Weak transcription	Pancreas	Pancrea
16	chr2:20436800-20440200	Weak transcription	Placenta	Placenta
17	chr2:20436800-20441800	Weak transcription	Esophagus	oesophagus
18	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20437000-20437800	Enhancers	HMEC	breast
20	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
21	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:20437200-20437800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:20437200-20441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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