Variant report

Variant	nsv912688
Chromosome Location	chr20:13546903-13589682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13556269..13557817-chr20:13617779..13619748,2	MCF-7	breast:
2	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
3	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
4	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
5	chr20:13589311..13590026-chr7:39112784..39113357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089123	chromatin interactions

Extended variants
information (count: 1645 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115417830	chr20:13546906-13546907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547526369	chr20:13546919-13546920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144696277	chr20:13546980-13546981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112486916	chr20:13547081-13547082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192381028	chr20:13547091-13547092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201072436	chr20:13547102-13547103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555160488	chr20:13547106-13547107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569519210	chr20:13547107-13547108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74786669	chr20:13547125-13547126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557902788	chr20:13547153-13547154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148527885	chr20:13547261-13547262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73268976	chr20:13547263-13547264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554241930	chr20:13547310-13547311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574096491	chr20:13547338-13547339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184548884	chr20:13547381-13547382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575058724	chr20:13547382-13547383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113270213	chr20:13547410-13547411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369700778	chr20:13547445-13547446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115420316	chr20:13547446-13547447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs80332929	chr20:13547450-13547451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78284552	chr20:13547475-13547476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375297948	chr20:13547514-13547515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2103972	chr20:13547537-13547538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188845612	chr20:13547558-13547559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192887042	chr20:13547559-13547560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577011274	chr20:13547565-13547566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144341497	chr20:13547573-13547574	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185024866	chr20:13547603-13547604	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547660864	chr20:13547626-13547627	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117183867	chr20:13547631-13547632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529787328	chr20:13547683-13547684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573836954	chr20:13547746-13547747	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368931596	chr20:13547750-13547751	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189491671	chr20:13547751-13547752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs180931242	chr20:13547773-13547774	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551667257	chr20:13547809-13547810	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571459671	chr20:13547813-13547814	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534122990	chr20:13547817-13547818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6134913	chr20:13547830-13547831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs8122011	chr20:13547832-13547833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146482669	chr20:13547856-13547857	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111861021	chr20:13547901-13547902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556490607	chr20:13547910-13547911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576518105	chr20:13547938-13547939	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183516007	chr20:13547994-13547995	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374882189	chr20:13548017-13548018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189370210	chr20:13548089-13548090	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182022345	chr20:13548090-13548091	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186209133	chr20:13548167-13548168	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78047324	chr20:13548192-13548193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
3	chr20:13506400-13558800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr20:13508000-13563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr20:13508200-13556400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13508400-13550400	Weak transcription	GM12878-XiMat	blood
7	chr20:13508400-13556000	Weak transcription	HSMM	muscle
8	chr20:13508400-13559600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr20:13508400-13563400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr20:13509200-13548200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr20:13509200-13556000	Weak transcription	Fetal Stomach	stomach
12	chr20:13509800-13547400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr20:13512800-13548400	Weak transcription	Left Ventricle	heart
14	chr20:13512800-13556000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:13513800-13547600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr20:13515000-13605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr20:13526800-13561800	Weak transcription	Stomach Mucosa	stomach
18	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
19	chr20:13527000-13556000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:13527400-13552200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr20:13527400-13560000	Weak transcription	HSMMtube	muscle
22	chr20:13527400-13562200	Weak transcription	Aorta	Aorta
23	chr20:13527400-13563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:13527600-13559600	Weak transcription	HMEC	breast
25	chr20:13527800-13563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:13529200-13552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr20:13529400-13555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:13530600-13547600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:13532400-13547800	Weak transcription	Fetal Lung	lung
30	chr20:13533400-13547000	Weak transcription	A549	lung
31	chr20:13534600-13563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr20:13534600-13563600	Weak transcription	Lung	lung
33	chr20:13534800-13552200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr20:13535000-13559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr20:13535000-13563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr20:13535200-13560200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr20:13535400-13547400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr20:13535400-13556400	Weak transcription	Liver	Liver
39	chr20:13535600-13608000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:13535800-13547600	Weak transcription	Brain Angular Gyrus	brain
41	chr20:13535800-13552400	Weak transcription	NHDF-Ad	bronchial
42	chr20:13535800-13561400	Weak transcription	NHEK	skin
43	chr20:13536600-13551400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:13536600-13556000	Weak transcription	Fetal Muscle Leg	muscle
45	chr20:13536800-13563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr20:13537400-13563600	Weak transcription	Placenta	Placenta
47	chr20:13537600-13556000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:13538200-13571800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr20:13538800-13556000	Weak transcription	Ovary	ovary
50	chr20:13538800-13556200	Weak transcription	Fetal Intestine Large	intestine

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