Variant report

Variant	esv3530653
Chromosome Location	chr14:66157648-66158250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574349851	chr14:66157692-66157693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370219490	chr14:66157695-66157696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184823126	chr14:66157696-66157697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189197715	chr14:66157710-66157711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544802755	chr14:66157724-66157725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565037617	chr14:66157753-66157754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77949907	chr14:66157761-66157762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192192327	chr14:66157815-66157816	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560912327	chr14:66157832-66157833	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529642026	chr14:66157838-66157839	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12882200	chr14:66157861-66157862	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563370057	chr14:66157866-66157867	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531944419	chr14:66157868-66157869	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373177625	chr14:66157883-66157884	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551962074	chr14:66157943-66157944	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571860436	chr14:66157967-66157968	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184185181	chr14:66157989-66157990	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547749465	chr14:66157994-66157995	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189628523	chr14:66158015-66158016	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536237447	chr14:66158019-66158020	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181581986	chr14:66158056-66158057	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs117968972	chr14:66158067-66158068	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186347862	chr14:66158088-66158089	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189582799	chr14:66158103-66158104	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545566241	chr14:66158147-66158148	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530490125	chr14:66158172-66158173	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146087647	chr14:66158193-66158194	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375051893	chr14:66158245-66158246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
5	chr14:66147800-66170200	Weak transcription	Primary B cells from cord blood	blood
6	chr14:66153800-66160200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:66154000-66170000	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:66154200-66157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:66154200-66157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:66154200-66157800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:66156000-66160000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:66156000-66161200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:66156000-66163400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:66156000-66179600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:66156200-66160200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:66156200-66172600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:66157200-66157800	Weak transcription	Dnd41	blood
18	chr14:66157600-66157800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr14:66157800-66158200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:66157800-66158200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr14:66157800-66158200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:66157800-66158200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:66157800-66158200	ZNF genes & repeats	Dnd41	blood
24	chr14:66157800-66160000	Weak transcription	Fetal Intestine Small	intestine
25	chr14:66158200-66160200	Weak transcription	Dnd41	blood

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