Variant report

Variant	esv3429119
Chromosome Location	chr14:79874849-79877397
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	chr14:79875683..79878645-chr5:173629859..173632851,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35744411	chr14:79874859-79874860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566735071	chr14:79874901-79874902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148983780	chr14:79874928-79874929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115698949	chr14:79874998-79874999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111679765	chr14:79875026-79875027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188824352	chr14:79875055-79875056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547046845	chr14:79875056-79875057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116819681	chr14:79875072-79875073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4899743	chr14:79875081-79875082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534036405	chr14:79875085-79875086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554266675	chr14:79875086-79875087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192085500	chr14:79875144-79875145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4903855	chr14:79875200-79875201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78674288	chr14:79875209-79875210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151129588	chr14:79875228-79875229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142332093	chr14:79875231-79875232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541859638	chr14:79875245-79875246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76658197	chr14:79875263-79875264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4899744	chr14:79875300-79875301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146436868	chr14:79875305-79875306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540786571	chr14:79875319-79875320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569331153	chr14:79875329-79875330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558001897	chr14:79875369-79875370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115630011	chr14:79875468-79875469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74921536	chr14:79875485-79875486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536485250	chr14:79875494-79875495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139049455	chr14:79875496-79875497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531907763	chr14:79875552-79875553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370852692	chr14:79875567-79875568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143060478	chr14:79875568-79875569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571452314	chr14:79875592-79875593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75037181	chr14:79875614-79875615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545987268	chr14:79875615-79875616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568370517	chr14:79875635-79875636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536290139	chr14:79875670-79875671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534170710	chr14:79875684-79875685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547939862	chr14:79875746-79875747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115864776	chr14:79875765-79875766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555127974	chr14:79875816-79875817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573485391	chr14:79875817-79875818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540495354	chr14:79875869-79875870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560084053	chr14:79875910-79875911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34072420	chr14:79875939-79875940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369606786	chr14:79875940-79875941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138659957	chr14:79875949-79875950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542767782	chr14:79875958-79875959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71131702	chr14:79875959-79875960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201278928	chr14:79875960-79875961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201699781	chr14:79875962-79875963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200275775	chr14:79875964-79875965	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79867800-79877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:79872600-79884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:79873200-79875200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:79873800-79875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:79873800-79875800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:79874000-79875800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:79874200-79877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:79874400-79875200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79874400-79877200	Weak transcription	NHEK	skin
10	chr14:79874600-79875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:79874600-79875800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:79874600-79875800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:79874600-79877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:79874600-79878200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:79874800-79875000	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:79874800-79875600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:79874800-79875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:79874800-79875600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:79875600-79880000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:79875800-79879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:79875800-79879800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:79875800-79880200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:79877200-79878600	Enhancers	NHEK	skin

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