Variant report

Variant	nsv977479
Chromosome Location	chr14:67506148-67513432
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	chr14:67510207..67512789-chr14:67538433..67540909,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8021098	chr14:67506207-67506208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117822119	chr14:67506234-67506235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540195017	chr14:67506240-67506241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535275547	chr14:67506267-67506268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140106354	chr14:67506335-67506336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78369203	chr14:67506350-67506351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150023984	chr14:67506365-67506366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79612939	chr14:67506380-67506381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75847136	chr14:67506393-67506394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76445283	chr14:67506402-67506403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79853100	chr14:67506417-67506418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79056621	chr14:67506440-67506441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77096640	chr14:67506442-67506443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539475261	chr14:67506443-67506444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80037515	chr14:67506447-67506448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76290834	chr14:67506449-67506450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77286412	chr14:67506456-67506457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79468691	chr14:67506459-67506460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77362986	chr14:67506460-67506461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74757639	chr14:67506466-67506467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557867283	chr14:67506467-67506468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74432395	chr14:67506474-67506475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74574693	chr14:67506475-67506476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576181032	chr14:67506478-67506479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185141405	chr14:67506486-67506487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561882823	chr14:67506550-67506551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573799093	chr14:67506616-67506617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145253133	chr14:67506645-67506646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6573746	chr14:67506653-67506654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs533131969	chr14:67506677-67506678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551334013	chr14:67506713-67506714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192086775	chr14:67506739-67506740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375509628	chr14:67506748-67506749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530871741	chr14:67506762-67506763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35189439	chr14:67506793-67506794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549212398	chr14:67506810-67506811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75880157	chr14:67506833-67506834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534948859	chr14:67506839-67506840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547257755	chr14:67506872-67506873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571875106	chr14:67506945-67506946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374467960	chr14:67506953-67506954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539365119	chr14:67507063-67507064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557755021	chr14:67507068-67507069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149163786	chr14:67507074-67507075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537097939	chr14:67507095-67507096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555209329	chr14:67507098-67507099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573762173	chr14:67507111-67507112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546083572	chr14:67507326-67507327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553151556	chr14:67507360-67507361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577480025	chr14:67507403-67507404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67485200-67511200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:67488400-67511200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:67488800-67511200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:67491600-67509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:67491600-67511200	Weak transcription	Ovary	ovary
6	chr14:67494600-67511200	Weak transcription	Psoas Muscle	Psoas
7	chr14:67499200-67511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:67499400-67511200	Weak transcription	Aorta	Aorta
9	chr14:67499400-67511200	Weak transcription	Pancreas	Pancrea
10	chr14:67499400-67511200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:67499600-67511200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:67499600-67511200	Weak transcription	Left Ventricle	heart
13	chr14:67499800-67511200	Weak transcription	Liver	Liver
14	chr14:67500800-67511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:67500800-67511200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:67501000-67511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:67506600-67511200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:67509200-67511200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:67509400-67509600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:67510600-67511200	Weak transcription	Fetal Kidney	kidney
21	chr14:67511000-67511200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:67511200-67511400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr14:67511200-67511400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr14:67511200-67511400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:67511200-67511400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr14:67511200-67511400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:67511200-67511400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr14:67511200-67511400	Bivalent/Poised TSS	Fetal Heart	heart
32	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	Lung	lung
33	chr14:67511200-67511400	Active TSS	Small Intestine	intestine
34	chr14:67511200-67511400	Bivalent Enhancer	HepG2	liver
35	chr14:67511200-67511400	Bivalent Enhancer	HSMM	muscle
36	chr14:67511200-67511400	ZNF genes & repeats	HSMMtube	muscle
37	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	K562	blood
38	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	NH-A	brain
39	chr14:67511200-67511400	Flanking Bivalent TSS/Enh	NHEK	skin
40	chr14:67511200-67511600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr14:67511200-67511600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:67511200-67511600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
46	chr14:67511200-67511600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:67511200-67511600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:67511200-67511600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:67511200-67511600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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