Variant report

Variant	esv3407575
Chromosome Location	chr20:26198452-26215150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:26208071..26209607-chr3:75987301..75988916,2	K562	blood:
2	chr20:26201563..26203476-chr3:75993448..75995749,2	K562	blood:
3	chr20:26208095..26209894-chr3:75988198..75990401,2	MCF-7	breast:
4	chr20:26201915..26204776-chr3:75992954..75996738,5	MCF-7	breast:
5	chr20:26192921..26195094-chr20:26197740..26199404,2	K562	blood:
6	chr20:26206073..26206971-chr3:75991464..75992265,2	MCF-7	breast:
7	chr20:26199924..26201625-chr3:75995563..75997738,2	MCF-7	breast:

Extended variants
information (count: 1215 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73109837	chr20:26198455-26198456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532475202	chr20:26198497-26198498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533852850	chr20:26198504-26198505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186989149	chr20:26198510-26198511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576436383	chr20:26198597-26198598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545355675	chr20:26198628-26198629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375868691	chr20:26198660-26198661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556025436	chr20:26198661-26198662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576084666	chr20:26198732-26198733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544508909	chr20:26198734-26198735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373780807	chr20:26198736-26198737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561519240	chr20:26198761-26198762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547355751	chr20:26198790-26198791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530280670	chr20:26198791-26198792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35612077	chr20:26198792-26198793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540947152	chr20:26198851-26198852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs845789	chr20:26198853-26198854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs532560080	chr20:26198856-26198857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377615890	chr20:26198881-26198882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552595719	chr20:26198882-26198883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569298087	chr20:26198908-26198909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148663294	chr20:26198955-26198956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3038945	chr20:26198969-26198970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531809238	chr20:26198977-26198978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548361048	chr20:26199019-26199020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1881453	chr20:26199056-26199057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs207477527	chr20:26199057-26199058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141941481	chr20:26199074-26199075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191437583	chr20:26199077-26199078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529856939	chr20:26199081-26199082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2019596	chr20:26199089-26199090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199582828	chr20:26199173-26199174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570801507	chr20:26199200-26199201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201937638	chr20:26199248-26199249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2889442	chr20:26199255-26199256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6115566	chr20:26199262-26199263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3859661	chr20:26199287-26199288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534635981	chr20:26199293-26199294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377458748	chr20:26199342-26199343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183348135	chr20:26199374-26199375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3038941	chr20:26199451-26199452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138378531	chr20:26199452-26199453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373789557	chr20:26199454-26199455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2019592	chr20:26199459-26199460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76927459	chr20:26199462-26199463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539096554	chr20:26199469-26199470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1881452	chr20:26199491-26199492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200922825	chr20:26199505-26199506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556105672	chr20:26199532-26199533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78987623	chr20:26199536-26199537	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26197200-26198800	Weak transcription	Osteobl	bone
2	chr20:26197400-26198800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr20:26197400-26199200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:26197600-26199200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:26198800-26200000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:26199200-26199400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:26199200-26199400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:26199200-26199400	Enhancers	Osteobl	bone
9	chr20:26199800-26204600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr20:26200200-26214200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr20:26200400-26202200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:26200800-26204800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:26201600-26202400	ZNF genes & repeats	Fetal Lung	lung
14	chr20:26201600-26202400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr20:26201800-26202400	ZNF genes & repeats	Fetal Brain Male	brain
16	chr20:26201800-26213400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr20:26202000-26202200	Flanking Bivalent TSS/Enh	Aorta	Aorta
18	chr20:26202200-26202400	Active TSS	Aorta	Aorta
19	chr20:26202400-26203400	Weak transcription	Aorta	Aorta
20	chr20:26203400-26203600	Flanking Active TSS	Aorta	Aorta
21	chr20:26203400-26203600	ZNF genes & repeats	Fetal Brain Male	brain
22	chr20:26203600-26203800	Active TSS	Aorta	Aorta
23	chr20:26203800-26207800	Weak transcription	Aorta	Aorta
24	chr20:26204000-26204200	Bivalent/Poised TSS	Right Atrium	heart
25	chr20:26205000-26205200	Bivalent/Poised TSS	Pancreas	Pancrea
26	chr20:26207600-26208600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:26207600-26209400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:26207600-26214200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr20:26207800-26208200	ZNF genes & repeats	Aorta	Aorta
30	chr20:26208200-26208800	ZNF genes & repeats	A549	lung
31	chr20:26208600-26210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:26210000-26212000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:26210400-26212000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr20:26210800-26211400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:26211000-26211400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:26211200-26211400	Enhancers	Pancreas	Pancrea
37	chr20:26211400-26212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:26212800-26213000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr20:26213400-26214000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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