Variant report

Variant	esv2237407
Chromosome Location	chr14:77701658-77702076
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	chr14:77698665..77701683-chr14:77707359..77710603,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 69 )

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	rs571108038	chr14:77701691-77701692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539708174	chr14:77701710-77701711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550082125	chr14:77701711-77701712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs392531	chr14:77701749-77701750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569261878	chr14:77701757-77701758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2540885	chr14:77701761-77701762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199737378	chr14:77701767-77701768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142748596	chr14:77701777-77701778	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs555031953	chr14:77701782-77701783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146162188	chr14:77701783-77701784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183714656	chr14:77701785-77701786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200709965	chr14:77701789-77701790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549269088	chr14:77701791-77701792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557704702	chr14:77701803-77701804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577785644	chr14:77701804-77701805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543714036	chr14:77701817-77701818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563579307	chr14:77701818-77701819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576465490	chr14:77701819-77701820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542284860	chr14:77701825-77701826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188131853	chr14:77701828-77701829	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs182003444	chr14:77701830-77701831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547884489	chr14:77701831-77701832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564492472	chr14:77701832-77701833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533350958	chr14:77701833-77701834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71413452	chr14:77701852-77701853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8009203	chr14:77701853-77701854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8010168	chr14:77701855-77701856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550018735	chr14:77701858-77701859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570052922	chr14:77701859-77701860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535081471	chr14:77701860-77701861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58430100	chr14:77701869-77701870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59692756	chr14:77701870-77701871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59202118	chr14:77701880-77701881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58411577	chr14:77701883-77701884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59630518	chr14:77701885-77701886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534388752	chr14:77701886-77701887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557857924	chr14:77701887-77701888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs393088	chr14:77701903-77701904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555481176	chr14:77701907-77701908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186627988	chr14:77701925-77701926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs434245	chr14:77701937-77701938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191333729	chr14:77702006-77702007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111884701	chr14:77702020-77702021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199714937	chr14:77702022-77702023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186974058	chr14:77702029-77702030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:77694400-77704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:77697600-77704800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
10	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
11	chr14:77698600-77705000	Weak transcription	Brain Germinal Matrix	brain
12	chr14:77700000-77704600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:77700000-77706000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:77700400-77705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:77700600-77705400	Weak transcription	Fetal Brain Female	brain
16	chr14:77701400-77708400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:77701600-77710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links