Variant report

Variant	rs72830202
Chromosome Location	chr17:20165621-20165622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20159792..20163252-chr17:20165134..20168652,3	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55650639	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55814709	0.81[EUR][1000 genomes]
rs55832890	0.81[EUR][1000 genomes]
rs55853482	0.81[EUR][1000 genomes]
rs55854412	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55939726	0.81[EUR][1000 genomes]
rs56002404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56009494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56020078	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56020655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56034568	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56074205	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56194672	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56208903	0.81[EUR][1000 genomes]
rs56267204	0.81[EUR][1000 genomes]
rs56281769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830128	0.81[EUR][1000 genomes]
rs72830141	0.83[EUR][1000 genomes]
rs72830145	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830150	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72830153	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830165	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830177	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72830188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72830191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72832508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72832515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72832518	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72832520	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72832522	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064854	chr17:20086562-20225751	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 lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
13	nsv1062124	chr17:20139384-20206601	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv543261	chr17:20139384-20206601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20130600-20170000	Weak transcription	K562	blood
3	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:20150400-20170200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:20151600-20170800	Weak transcription	GM12878-XiMat	blood
7	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
8	chr17:20151800-20165800	Weak transcription	HMEC	breast
9	chr17:20151800-20167000	Weak transcription	NH-A	brain
10	chr17:20152800-20169800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:20152800-20176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:20157600-20165800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:20158000-20166200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:20159800-20165800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr17:20159800-20168200	Weak transcription	Fetal Heart	heart
16	chr17:20160600-20165800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:20160600-20166000	Strong transcription	Hela-S3	cervix
18	chr17:20161800-20180200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:20162000-20165800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:20162000-20166000	Weak transcription	Small Intestine	intestine
21	chr17:20162000-20166200	Weak transcription	Aorta	Aorta
22	chr17:20162000-20172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:20162000-20172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:20162000-20174600	Weak transcription	Thymus	Thymus
25	chr17:20162000-20176600	Weak transcription	Fetal Brain Male	brain
26	chr17:20162000-20187600	Weak transcription	Pancreas	Pancrea
27	chr17:20162200-20167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:20162200-20170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:20162200-20170200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:20162200-20170400	Weak transcription	Fetal Lung	lung
31	chr17:20162400-20166000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:20163800-20170400	Weak transcription	Lung	lung
33	chr17:20164000-20165800	Strong transcription	Brain Angular Gyrus	brain
34	chr17:20164000-20170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:20164000-20172800	Weak transcription	Left Ventricle	heart
36	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
37	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
38	chr17:20164200-20166000	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:20164200-20166000	Weak transcription	Spleen	Spleen
40	chr17:20164200-20167000	Weak transcription	NHEK	skin
41	chr17:20164200-20167200	Weak transcription	HSMMtube	muscle
42	chr17:20164200-20170200	Weak transcription	Fetal Intestine Small	intestine
43	chr17:20164200-20170200	Weak transcription	Osteobl	bone
44	chr17:20164200-20170400	Weak transcription	Fetal Stomach	stomach
45	chr17:20164200-20172600	Weak transcription	Adipose Nuclei	Adipose
46	chr17:20164200-20176200	Weak transcription	Fetal Brain Female	brain
47	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:20164400-20170600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr17:20164600-20165800	Weak transcription	Primary hematopoietic stem cells	blood

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