Variant report

Variant	esv3530176
Chromosome Location	chr14:69740705-69743925
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	chr14:69731294..69733482-chr14:69742297..69745084,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541304027	chr14:69740714-69740715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371847761	chr14:69740715-69740716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191994360	chr14:69740755-69740756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141996911	chr14:69740848-69740849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551501789	chr14:69740849-69740850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563392225	chr14:69740884-69740885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182667143	chr14:69740886-69740887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116244423	chr14:69740887-69740888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539902696	chr14:69740937-69740938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187665373	chr14:69740964-69740965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567895234	chr14:69740979-69740980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140003341	chr14:69741004-69741005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74059933	chr14:69741028-69741029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143875535	chr14:69741092-69741093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538601796	chr14:69741157-69741158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372020921	chr14:69741243-69741244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557222781	chr14:69741257-69741258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34842688	chr14:69741258-69741259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534977717	chr14:69741305-69741306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139863522	chr14:69741354-69741355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367734899	chr14:69741368-69741369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143311764	chr14:69741443-69741444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541340386	chr14:69741445-69741446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191543750	chr14:69741479-69741480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559637830	chr14:69741485-69741486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577757061	chr14:69741556-69741557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561712969	chr14:69741577-69741578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545009272	chr14:69741592-69741593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555035640	chr14:69741604-69741605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370335765	chr14:69741654-69741655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182621553	chr14:69741655-69741656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548777897	chr14:69741753-69741754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576428862	chr14:69741764-69741765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528622215	chr14:69741824-69741825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72625667	chr14:69741826-69741827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73290572	chr14:69741860-69741861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146720959	chr14:69741875-69741876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550929849	chr14:69741914-69741915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569128271	chr14:69741919-69741920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34787340	chr14:69741920-69741921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375489458	chr14:69741934-69741935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554724749	chr14:69741954-69741955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369983086	chr14:69742058-69742059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534805816	chr14:69742075-69742076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138838697	chr14:69742088-69742089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199667938	chr14:69742101-69742102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543863441	chr14:69742139-69742140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553342776	chr14:69742140-69742141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7160861	chr14:69742144-69742145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112653109	chr14:69742152-69742153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69730800-69754000	Weak transcription	Brain Anterior Caudate	brain
2	chr14:69733000-69748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69735800-69771600	Weak transcription	Fetal Intestine Small	intestine
4	chr14:69736800-69740800	Weak transcription	HSMMtube	muscle
5	chr14:69738200-69758200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:69739600-69740800	Enhancers	Right Ventricle	heart
7	chr14:69740000-69741800	Enhancers	Right Atrium	heart
8	chr14:69740000-69742400	Enhancers	Left Ventricle	heart
9	chr14:69740400-69742400	Enhancers	Fetal Heart	heart
10	chr14:69740400-69754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69740800-69741800	Enhancers	HSMMtube	muscle
12	chr14:69740800-69742200	Weak transcription	Right Ventricle	heart
13	chr14:69741200-69743600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:69741800-69750000	Weak transcription	Right Atrium	heart
15	chr14:69742200-69742600	Enhancers	Right Ventricle	heart
16	chr14:69742400-69747600	Weak transcription	Left Ventricle	heart
17	chr14:69742600-69746200	Weak transcription	Right Ventricle	heart
18	chr14:69743600-69743800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:69743600-69748400	Weak transcription	Gastric	stomach
20	chr14:69743800-69747800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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