Variant report

Variant	esv3371621
Chromosome Location	chr14:79842099-79843197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556226840	chr14:79842157-79842158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186853554	chr14:79842253-79842254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541987076	chr14:79842271-79842272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192135838	chr14:79842303-79842304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368633049	chr14:79842347-79842348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115632416	chr14:79842364-79842365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540845194	chr14:79842365-79842366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67398177	chr14:79842407-79842408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112787819	chr14:79842408-79842409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141539295	chr14:79842442-79842443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147043395	chr14:79842451-79842452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183914234	chr14:79842471-79842472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369678546	chr14:79842539-79842540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182026899	chr14:79842542-79842543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571361796	chr14:79842550-79842551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7494375	chr14:79842551-79842552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367761390	chr14:79842555-79842556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7494376	chr14:79842557-79842558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58804272	chr14:79842590-79842591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71131699	chr14:79842592-79842593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12896134	chr14:79842598-79842599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200276688	chr14:79842603-79842604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74360224	chr14:79842606-79842607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201875195	chr14:79842608-79842609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61993075	chr14:79842610-79842611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534096235	chr14:79842627-79842628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562582844	chr14:79842651-79842652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2218782	chr14:79842739-79842740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112173534	chr14:79842745-79842746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187685765	chr14:79842746-79842747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78489924	chr14:79842833-79842834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544464722	chr14:79842867-79842868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36007297	chr14:79842876-79842877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577730089	chr14:79843002-79843003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539771567	chr14:79843050-79843051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73327707	chr14:79843056-79843057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536158657	chr14:79843083-79843084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375020113	chr14:79843101-79843102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569925493	chr14:79843125-79843126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12879869	chr14:79843154-79843155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138377528	chr14:79843197-79843198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79836600-79843000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:79839400-79842200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:79839400-79844600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:79839400-79846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:79839600-79842200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:79839800-79842200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:79840200-79846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:79840600-79842200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79841000-79844200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:79841800-79842200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:79842000-79842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:79842000-79844200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:79842000-79844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:79842000-79844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:79842200-79842600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:79842200-79842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:79842200-79842600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:79842200-79845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:79842600-79844200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:79842600-79844200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:79842600-79846200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:79842800-79843000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:79842800-79843600	Enhancers	Colon Smooth Muscle	Colon
24	chr14:79843000-79843400	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:79843000-79844600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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