Variant report

Variant	nsv564957
Chromosome Location	chr14:67318878-67356061
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	chr14:67347067..67349521-chr14:67447070..67449089,2	MCF-7	breast:

Extended variants
information (count: 1246 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1980573	chr14:67318878-67318879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368665855	chr14:67318912-67318913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117827529	chr14:67318923-67318924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578095597	chr14:67318951-67318952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116344702	chr14:67319042-67319043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563791588	chr14:67319069-67319070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142900782	chr14:67319083-67319084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374445874	chr14:67319087-67319088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113038595	chr14:67319098-67319099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371884270	chr14:67319104-67319105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537863773	chr14:67319108-67319109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147866657	chr14:67319111-67319112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543213387	chr14:67319114-67319115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561366028	chr14:67319115-67319116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528781081	chr14:67319120-67319121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546920973	chr14:67319121-67319122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115229233	chr14:67319125-67319126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532780506	chr14:67319129-67319130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551033419	chr14:67319142-67319143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569736902	chr14:67319148-67319149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536806426	chr14:67319149-67319150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78240428	chr14:67319156-67319157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567376363	chr14:67319241-67319242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370399530	chr14:67319247-67319248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79457491	chr14:67319265-67319266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553318531	chr14:67319266-67319267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578048223	chr14:67319276-67319277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545420785	chr14:67319278-67319279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557133098	chr14:67319280-67319281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535157252	chr14:67319381-67319382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141485708	chr14:67319390-67319391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542803857	chr14:67319399-67319400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78333818	chr14:67319402-67319403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553827567	chr14:67319457-67319458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528698770	chr14:67319459-67319460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117018646	chr14:67319473-67319474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565259923	chr14:67319489-67319490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566940982	chr14:67319505-67319506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368792395	chr14:67319506-67319507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545576091	chr14:67319521-67319522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182358230	chr14:67319522-67319523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10143670	chr14:67319524-67319525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550973723	chr14:67319533-67319534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371277992	chr14:67319543-67319544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569591447	chr14:67319557-67319558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186684147	chr14:67319593-67319594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375861709	chr14:67319606-67319607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150991795	chr14:67319626-67319627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543423732	chr14:67319638-67319639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534834034	chr14:67319688-67319689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67310200-67326600	Weak transcription	Left Ventricle	heart
2	chr14:67320200-67320400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:67320400-67325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:67321600-67326000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:67323600-67325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:67323600-67325800	Weak transcription	NHEK	skin
7	chr14:67323600-67326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:67323600-67327400	Weak transcription	Psoas Muscle	Psoas
9	chr14:67324000-67341400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:67324200-67325400	Weak transcription	Fetal Stomach	stomach
11	chr14:67324400-67325200	Enhancers	Liver	Liver
12	chr14:67324400-67326400	Enhancers	HepG2	liver
13	chr14:67324600-67325000	ZNF genes & repeats	Pancreas	Pancrea
14	chr14:67324800-67325000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:67324800-67325600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:67325000-67327400	Weak transcription	Pancreas	Pancrea
17	chr14:67325200-67326000	Weak transcription	Liver	Liver
18	chr14:67325400-67325600	ZNF genes & repeats	Fetal Stomach	stomach
19	chr14:67325400-67326000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:67325800-67326200	Enhancers	NHEK	skin
21	chr14:67325800-67326400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:67326000-67326800	Enhancers	Liver	Liver
23	chr14:67334400-67334800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:67334400-67334800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:67334400-67334800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:67334400-67334800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:67335000-67339600	Weak transcription	Esophagus	oesophagus
28	chr14:67335400-67336000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:67339000-67341600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:67339600-67340800	ZNF genes & repeats	Esophagus	oesophagus
31	chr14:67339800-67340400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr14:67339800-67340400	Enhancers	Right Ventricle	heart
33	chr14:67339800-67340800	ZNF genes & repeats	Liver	Liver
34	chr14:67340200-67341000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr14:67340600-67340800	ZNF genes & repeats	Dnd41	blood
36	chr14:67340800-67341400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr14:67340800-67348200	Weak transcription	Esophagus	oesophagus
38	chr14:67340800-67353200	Weak transcription	Dnd41	blood
39	chr14:67343600-67355400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:67345200-67359800	Weak transcription	Pancreas	Pancrea
41	chr14:67346000-67348400	Weak transcription	Liver	Liver
42	chr14:67348000-67348800	Enhancers	Brain Germinal Matrix	brain
43	chr14:67348400-67349200	Strong transcription	Liver	Liver
44	chr14:67349200-67354400	Weak transcription	Liver	Liver
45	chr14:67349400-67353600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:67350400-67353200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:67350800-67351200	Enhancers	Colon Smooth Muscle	Colon
48	chr14:67350800-67351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:67350800-67354000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:67351400-67352000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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