Variant report

Variant	esv3431102
Chromosome Location	chr20:16167252-16170750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16160448..16162621-chr20:16169095..16171289,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112769139	chr20:16167253-16167254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562592772	chr20:16167268-16167269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189793781	chr20:16167371-16167372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11698334	chr20:16167395-16167396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560336815	chr20:16167401-16167402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527944660	chr20:16167417-16167418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538060898	chr20:16167456-16167457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370608621	chr20:16167458-16167459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6110938	chr20:16167463-16167464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552460447	chr20:16167475-16167476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117921034	chr20:16167516-16167517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538237576	chr20:16167535-16167536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139520664	chr20:16167546-16167547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181396317	chr20:16167547-16167548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186861452	chr20:16167559-16167560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201422954	chr20:16167668-16167669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535982633	chr20:16167676-16167677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112901388	chr20:16167747-16167748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573092669	chr20:16167752-16167753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534041806	chr20:16167770-16167771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111310359	chr20:16167783-16167784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577102203	chr20:16167851-16167852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs932906	chr20:16167859-16167860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190530600	chr20:16167864-16167865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574164100	chr20:16167920-16167921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554133616	chr20:16167942-16167943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541539998	chr20:16167994-16167995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7262019	chr20:16168007-16168008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376308193	chr20:16168078-16168079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370750297	chr20:16168085-16168086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552540375	chr20:16168089-16168090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544890569	chr20:16168145-16168146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373561395	chr20:16168176-16168177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543503670	chr20:16168185-16168186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76246364	chr20:16168193-16168194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565404357	chr20:16168301-16168302	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145257278	chr20:16168307-16168308	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6135697	chr20:16168311-16168312	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77301522	chr20:16168371-16168372	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6043787	chr20:16168372-16168373	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs111413985	chr20:16168382-16168383	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547923778	chr20:16168401-16168402	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566625082	chr20:16168450-16168451	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527546532	chr20:16168478-16168479	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368658480	chr20:16168490-16168491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114994417	chr20:16168491-16168492	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558503972	chr20:16168527-16168528	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6110939	chr20:16168528-16168529	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs537769384	chr20:16168584-16168585	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556089740	chr20:16168585-16168586	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16167200-16168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:16168200-16168400	Enhancers	Gastric	stomach
3	chr20:16168200-16169200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:16168400-16168800	Enhancers	Spleen	Spleen
5	chr20:16168400-16169000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:16168400-16169400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:16168400-16169400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr20:16168400-16169400	ZNF genes & repeats	Esophagus	oesophagus
9	chr20:16168400-16169400	ZNF genes & repeats	Pancreas	Pancrea
10	chr20:16168400-16169600	ZNF genes & repeats	Gastric	stomach
11	chr20:16168600-16169000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:16168600-16169400	ZNF genes & repeats	Dnd41	blood
13	chr20:16168600-16169600	ZNF genes & repeats	Fetal Lung	lung
14	chr20:16168800-16169200	Bivalent/Poised TSS	Fetal Brain Male	brain
15	chr20:16168800-16169200	Active TSS	Spleen	Spleen
16	chr20:16168800-16169600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:16168800-16169600	ZNF genes & repeats	Fetal Kidney	kidney
18	chr20:16168800-16169800	ZNF genes & repeats	Lung	lung
19	chr20:16169000-16169200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:16169200-16169400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:16169200-16169800	Enhancers	Spleen	Spleen
22	chr20:16169200-16170400	Enhancers	Adipose Nuclei	Adipose
23	chr20:16169600-16170000	Enhancers	Fetal Stomach	stomach
24	chr20:16169600-16170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:16169600-16170600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr20:16169600-16170600	Weak transcription	Fetal Lung	lung
27	chr20:16169600-16170600	Enhancers	Fetal Muscle Leg	muscle
28	chr20:16169800-16170000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:16169800-16170200	Weak transcription	Lung	lung
30	chr20:16169800-16170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:16170000-16170600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:16170000-16175600	Weak transcription	Fetal Stomach	stomach
33	chr20:16170600-16172600	Enhancers	Fetal Lung	lung

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