Variant report

Variant	esv18596
Chromosome Location	chr14:56556987-56557460
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	chr14:56557295..56559117-chr14:56559482..56561735,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7158316	chr14:56556991-56556992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191995126	chr14:56556996-56556997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567258804	chr14:56557019-56557020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143432258	chr14:56557021-56557022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147148412	chr14:56557113-56557114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183135719	chr14:56557125-56557126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7158199	chr14:56557163-56557164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77322456	chr14:56557181-56557182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7159691	chr14:56557185-56557186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188353162	chr14:56557211-56557212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569328821	chr14:56557213-56557214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570441945	chr14:56557239-56557240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534963334	chr14:56557247-56557248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148606772	chr14:56557248-56557249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56387608	chr14:56557257-56557258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs241567	chr14:56557345-56557346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141387751	chr14:56557346-56557347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72622480	chr14:56557370-56557371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376674415	chr14:56557382-56557383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575361716	chr14:56557386-56557387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7159040	chr14:56557409-56557410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7160120	chr14:56557443-56557444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192541965	chr14:56557446-56557447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139152774	chr14:56557452-56557453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559649166	chr14:56557460-56557461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56553800-56559400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:56554000-56557000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:56554000-56558000	Enhancers	Fetal Brain Male	brain
4	chr14:56554200-56557000	Enhancers	Brain Germinal Matrix	brain
5	chr14:56555000-56557000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:56555000-56559400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:56555200-56559400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:56555200-56563600	Weak transcription	Pancreas	Pancrea
9	chr14:56555600-56559800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:56555600-56560400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:56555800-56557800	Enhancers	Fetal Brain Female	brain
12	chr14:56556000-56559400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:56556000-56559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:56556000-56560400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:56556200-56557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:56556200-56557200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:56556200-56559400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:56556200-56559800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:56556200-56559800	Weak transcription	Fetal Lung	lung
20	chr14:56556200-56565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:56556400-56557000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:56556400-56560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:56557000-56557600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:56557000-56557600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:56557000-56560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:56557200-56557600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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