Variant report

Variant	nsv828710
Chromosome Location	chr20:26199830-26213415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1068 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1068 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562883005	chr20:26199854-26199855	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531581252	chr20:26199862-26199863	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199532438	chr20:26199872-26199873	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62196846	chr20:26199896-26199897	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs548667600	chr20:26199897-26199898	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568422434	chr20:26199903-26199904	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527523359	chr20:26199904-26199905	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62196847	chr20:26199905-26199906	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs62196848	chr20:26199955-26199956	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62196849	chr20:26199959-26199960	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs150756299	chr20:26199973-26199974	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547189809	chr20:26199980-26199981	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62196850	chr20:26200007-26200008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs570443644	chr20:26200018-26200019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539333582	chr20:26200022-26200023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs703761	chr20:26200028-26200029	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79712356	chr20:26200031-26200032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs202092468	chr20:26200059-26200060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79365513	chr20:26200062-26200063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75806676	chr20:26200066-26200067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376288018	chr20:26200068-26200069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs575002819	chr20:26200086-26200087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73907736	chr20:26200089-26200090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs73352762	chr20:26200102-26200103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77004169	chr20:26200112-26200113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540405655	chr20:26200123-26200124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62196851	chr20:26200133-26200134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs368946234	chr20:26200138-26200139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62196852	chr20:26200173-26200174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs62196853	chr20:26200212-26200213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112347066	chr20:26200226-26200227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62196854	chr20:26200259-26200260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs77199544	chr20:26200276-26200277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62196855	chr20:26200279-26200280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569653598	chr20:26200310-26200311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62196856	chr20:26200314-26200315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73352768	chr20:26200379-26200380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535058670	chr20:26200390-26200391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555446791	chr20:26200399-26200400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62196857	chr20:26200434-26200435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs572161677	chr20:26200441-26200442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71246542	chr20:26200467-26200468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534441391	chr20:26200472-26200473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62196858	chr20:26200503-26200504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74319367	chr20:26200504-26200505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62196859	chr20:26200511-26200512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554383579	chr20:26200551-26200552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71246541	chr20:26200561-26200562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77304686	chr20:26200566-26200567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs3969838	chr20:26200588-26200589	ZNF genes & repeats	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:32 , 50 per page) page: 1

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

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