Variant report

Variant	esv3432379
Chromosome Location	chr20:12770696-12771255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535421580	chr20:12770718-12770719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150726174	chr20:12770725-12770726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575379618	chr20:12770736-12770737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142419520	chr20:12770770-12770771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7361405	chr20:12770782-12770783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557227068	chr20:12770787-12770788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577378999	chr20:12770790-12770791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs620789	chr20:12770811-12770812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs559973700	chr20:12770834-12770835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573041685	chr20:12770851-12770852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117239023	chr20:12770856-12770857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541787488	chr20:12770866-12770867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs474250	chr20:12770888-12770889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530863677	chr20:12770910-12770911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565938329	chr20:12770925-12770926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145971895	chr20:12771049-12771050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117347203	chr20:12771067-12771068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139652772	chr20:12771074-12771075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546507731	chr20:12771084-12771085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566760658	chr20:12771105-12771106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535767415	chr20:12771111-12771112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76273107	chr20:12771134-12771135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189083605	chr20:12771200-12771201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537504205	chr20:12771247-12771248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557825608	chr20:12771250-12771251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376865529	chr20:12771251-12771252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12769200-12770800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr20:12770200-12771000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:12770200-12771200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:12770200-12771200	Weak transcription	Fetal Kidney	kidney
5	chr20:12770200-12771800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:12770400-12770800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr20:12770400-12771000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr20:12770600-12771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:12770800-12778800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr20:12771000-12777800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr20:12771200-12772000	Enhancers	Fetal Kidney	kidney

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