Variant report

Variant	nsv965834
Chromosome Location	chr20:25533668-25535068
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	chr20:25519449..25520233-chr20:25534260..25534819,2	MCF-7	breast:
2	chr20:25527993..25531935-chr20:25532103..25536605,5	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560571277	chr20:25533671-25533672	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560064088	chr20:25533686-25533687	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528826644	chr20:25533738-25533739	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551789950	chr20:25533739-25533740	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73597818	chr20:25533740-25533741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35859338	chr20:25533753-25533754	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3036846	chr20:25533757-25533758	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183857989	chr20:25533861-25533862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527334295	chr20:25533871-25533872	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551062705	chr20:25533872-25533873	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73111240	chr20:25533873-25533874	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111687201	chr20:25533978-25533979	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367630440	chr20:25534062-25534063	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555457288	chr20:25534190-25534191	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567292346	chr20:25534278-25534279	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374315916	chr20:25534399-25534400	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549802347	chr20:25534402-25534403	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570428334	chr20:25534441-25534442	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566422919	chr20:25534442-25534443	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538597536	chr20:25534470-25534471	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537807567	chr20:25534497-25534498	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117939057	chr20:25534512-25534513	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73111242	chr20:25534516-25534517	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73337339	chr20:25534531-25534532	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs77086545	chr20:25534631-25534632	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554669174	chr20:25534633-25534634	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553973323	chr20:25534660-25534661	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574473635	chr20:25534676-25534677	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116557318	chr20:25534683-25534684	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560028393	chr20:25534725-25534726	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142121322	chr20:25534747-25534748	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545717798	chr20:25534786-25534787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565091818	chr20:25534809-25534810	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530958061	chr20:25534817-25534818	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs928121	chr20:25534818-25534819	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs561418314	chr20:25534828-25534829	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151161581	chr20:25534836-25534837	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116948922	chr20:25534854-25534855	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367786415	chr20:25534855-25534856	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566335786	chr20:25534868-25534869	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139331804	chr20:25534872-25534873	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145003510	chr20:25534884-25534885	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552462998	chr20:25534950-25534951	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192239264	chr20:25535029-25535030	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537822868	chr20:25535061-25535062	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:25521400-25534200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
4	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:25525000-25535400	Enhancers	Fetal Heart	heart
6	chr20:25526200-25534400	Weak transcription	Brain Substantia Nigra	brain
7	chr20:25526400-25543600	Weak transcription	Fetal Brain Female	brain
8	chr20:25526600-25534200	Weak transcription	Brain Hippocampus Middle	brain
9	chr20:25526600-25540200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:25529000-25535600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:25529600-25533800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:25529600-25534200	Weak transcription	Thymus	Thymus
13	chr20:25530400-25534200	Weak transcription	NHDF-Ad	bronchial
14	chr20:25530400-25534400	Weak transcription	Placenta	Placenta
15	chr20:25530400-25534400	Weak transcription	Pancreas	Pancrea
16	chr20:25530600-25542800	Weak transcription	HSMM	muscle
17	chr20:25530800-25534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:25530800-25540000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:25531000-25533800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:25531000-25534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:25531000-25534200	Weak transcription	NHLF	lung
22	chr20:25531000-25534400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr20:25531000-25534400	Weak transcription	Lung	lung
24	chr20:25531000-25534400	Weak transcription	Spleen	Spleen
25	chr20:25531000-25534400	Weak transcription	Hela-S3	cervix
26	chr20:25531000-25554000	Weak transcription	Osteobl	bone
27	chr20:25531200-25534200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:25531200-25534200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr20:25531200-25534200	Weak transcription	Fetal Muscle Leg	muscle
30	chr20:25531200-25534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:25531200-25534400	Weak transcription	Brain Germinal Matrix	brain
32	chr20:25531200-25534400	Weak transcription	Esophagus	oesophagus
33	chr20:25531200-25535000	Enhancers	Colon Smooth Muscle	Colon
34	chr20:25531200-25540200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr20:25531200-25544400	Weak transcription	Fetal Brain Male	brain
36	chr20:25531200-25559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr20:25531400-25534200	Weak transcription	Adipose Nuclei	Adipose
38	chr20:25531600-25534400	Weak transcription	Right Atrium	heart
39	chr20:25531800-25535000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:25531800-25535000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:25531800-25535200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:25532200-25534000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:25532200-25535000	Enhancers	Ovary	ovary
44	chr20:25532200-25535400	Enhancers	Fetal Stomach	stomach
45	chr20:25532400-25534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:25532400-25534200	Weak transcription	HUVEC	blood vessel
47	chr20:25532400-25535000	Enhancers	Rectal Smooth Muscle	rectum
48	chr20:25532600-25534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:25532600-25534400	Weak transcription	Fetal Kidney	kidney
50	chr20:25532600-25539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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