Variant report

Variant	esv3454947
Chromosome Location	chr20:14446512-14449951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs143930154	chr20:14446552-14446553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371309496	chr20:14446566-14446567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188474998	chr20:14446571-14446572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374807027	chr20:14446586-14446587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565717340	chr20:14446606-14446607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367792731	chr20:14446636-14446637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112367092	chr20:14446652-14446653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548180621	chr20:14446688-14446689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568293141	chr20:14446693-14446694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34671733	chr20:14446696-14446697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371701425	chr20:14446735-14446736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34287609	chr20:14446759-14446760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144543902	chr20:14446760-14446761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192223254	chr20:14446778-14446779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184286764	chr20:14446796-14446797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577466891	chr20:14446797-14446798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539171154	chr20:14446823-14446824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572864729	chr20:14446827-14446828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541790852	chr20:14446843-14446844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201825508	chr20:14446888-14446889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187169880	chr20:14446899-14446900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554963964	chr20:14446912-14446913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191673462	chr20:14446913-14446914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6135153	chr20:14446941-14446942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6135154	chr20:14446942-14446943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532499678	chr20:14446943-14446944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545879286	chr20:14446951-14446952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541792392	chr20:14446974-14446975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183635480	chr20:14446989-14446990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139795018	chr20:14446999-14447000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568273545	chr20:14447000-14447001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530805559	chr20:14447034-14447035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550530712	chr20:14447054-14447055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202202937	chr20:14447058-14447059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112344794	chr20:14447079-14447080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111699911	chr20:14447120-14447121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112374483	chr20:14447158-14447159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189298078	chr20:14447177-14447178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6131587	chr20:14447193-14447194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6131588	chr20:14447196-14447197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6135155	chr20:14447223-14447224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535111570	chr20:14447224-14447225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540877177	chr20:14447231-14447232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575055454	chr20:14447234-14447235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182184651	chr20:14447250-14447251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557309200	chr20:14447274-14447275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185798525	chr20:14447304-14447305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563946737	chr20:14447323-14447324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545940845	chr20:14447330-14447331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559424796	chr20:14447392-14447393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14444600-14451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:14447600-14451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:14447800-14448200	Active TSS	Gastric	stomach
4	chr20:14447800-14448200	Active TSS	Pancreas	Pancrea
5	chr20:14447800-14448400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:14447800-14448400	Active TSS	Colonic Mucosa	Colon
7	chr20:14447800-14448400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr20:14447800-14448400	Active TSS	A549	lung
9	chr20:14448000-14448200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:14448000-14448200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr20:14448000-14448400	Active TSS	Duodenum Mucosa	Duodenum
12	chr20:14448000-14448400	Active TSS	Stomach Mucosa	stomach
13	chr20:14448000-14448400	Enhancers	HepG2	liver
14	chr20:14448200-14448400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:14448200-14448400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr20:14448200-14450800	Weak transcription	Gastric	stomach
17	chr20:14448200-14450800	Weak transcription	Pancreas	Pancrea
18	chr20:14448200-14451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr20:14448400-14448600	Enhancers	Stomach Mucosa	stomach
20	chr20:14448400-14448600	Flanking Active TSS	A549	lung
21	chr20:14448400-14450800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr20:14448400-14450800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr20:14448400-14450800	Weak transcription	HepG2	liver
24	chr20:14448400-14451000	Weak transcription	Colonic Mucosa	Colon
25	chr20:14448400-14451000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr20:14448400-14451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:14448600-14450800	Weak transcription	Stomach Mucosa	stomach
28	chr20:14448600-14450800	Weak transcription	A549	lung

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