Variant report

Variant	esv3436040
Chromosome Location	chr14:79903872-79904358
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	chr14:79899576..79901464-chr14:79902826..79905660,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554889121	chr14:79903873-79903874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540100441	chr14:79903950-79903951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148305087	chr14:79903955-79903956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2003615	chr14:79903984-79903985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2003616	chr14:79903993-79903994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555818867	chr14:79904019-79904020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552448107	chr14:79904032-79904033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372247699	chr14:79904044-79904045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540827902	chr14:79904089-79904090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372633898	chr14:79904140-79904141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115563204	chr14:79904148-79904149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8022379	chr14:79904173-79904174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543673248	chr14:79904309-79904310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563163910	chr14:79904347-79904348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141443632	chr14:79904354-79904355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192052977	chr14:79904355-79904356	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79901800-79904800	Enhancers	Stomach Smooth Muscle	stomach
2	chr14:79902800-79904600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:79902800-79906800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:79903000-79904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:79903000-79904200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:79903000-79904600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:79903200-79904800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:79903200-79905600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:79903200-79906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:79903200-79908600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:79903400-79908200	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:79903400-79908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:79903400-79910200	Weak transcription	Fetal Stomach	stomach
14	chr14:79903600-79911800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:79904000-79904200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:79904000-79904600	Enhancers	Pancreas	Pancrea
17	chr14:79904000-79904600	Enhancers	Psoas Muscle	Psoas
18	chr14:79904200-79905200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:79904200-79906200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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