Variant report

Variant	nsv902040
Chromosome Location	chr14:67147286-67193023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
2	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
3	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
4	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1D-6	chr14:67184597-67184862	expRegAs_chr14_4324_-
2	lnc-ATP6V1D-5	chr14:67187470-67188083	predAs_ge08_ARG2_2

No data

Extended variants
information (count: 1793 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1793 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs941808	chr14:67147286-67147287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78453952	chr14:67147369-67147370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144560221	chr14:67147412-67147413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73287803	chr14:67147442-67147443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558377946	chr14:67147457-67147458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77525109	chr14:67147480-67147481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576780135	chr14:67147498-67147499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541180748	chr14:67147501-67147502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113170655	chr14:67147502-67147503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574448335	chr14:67147509-67147510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367927315	chr14:67147512-67147513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192062977	chr14:67147539-67147540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141688628	chr14:67147562-67147563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8021087	chr14:67147586-67147587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184151992	chr14:67147614-67147615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186297599	chr14:67147628-67147629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190637963	chr14:67147639-67147640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570679721	chr14:67147718-67147719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575220854	chr14:67147719-67147720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77211110	chr14:67147729-67147730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370364971	chr14:67147781-67147782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201109534	chr14:67147794-67147795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560521073	chr14:67147795-67147796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373821253	chr14:67147813-67147814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3759753	chr14:67147816-67147817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs144247888	chr14:67147846-67147847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371802458	chr14:67147851-67147852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530173903	chr14:67147861-67147862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117256383	chr14:67147887-67147888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375086647	chr14:67147889-67147890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183022603	chr14:67147912-67147913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150524427	chr14:67147929-67147930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565920386	chr14:67147942-67147943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534540276	chr14:67147955-67147956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554717937	chr14:67147968-67147969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375826790	chr14:67147972-67147973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574485859	chr14:67147983-67147984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3759754	chr14:67147993-67147994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs115092096	chr14:67148013-67148014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576895661	chr14:67148019-67148020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74749398	chr14:67148026-67148027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565578929	chr14:67148028-67148029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111726861	chr14:67148041-67148042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143153065	chr14:67148056-67148057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34701892	chr14:67148080-67148081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561517234	chr14:67148115-67148116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546107163	chr14:67148116-67148117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7142755	chr14:67148124-67148125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs8005352	chr14:67148135-67148136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs563402060	chr14:67148140-67148141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67144400-67168200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67146000-67156600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:67146000-67172000	Weak transcription	Liver	Liver
4	chr14:67146400-67148400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:67146600-67149000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:67146800-67148400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:67147400-67151000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:67148000-67162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:67148200-67151000	Weak transcription	Dnd41	blood
10	chr14:67148400-67148800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:67148400-67149000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67148800-67169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:67149000-67156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:67151000-67151400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr14:67151000-67151400	ZNF genes & repeats	Dnd41	blood
16	chr14:67151400-67151600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:67154200-67164200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:67154600-67154800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:67157400-67157800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:67157600-67158200	Enhancers	Gastric	stomach
21	chr14:67157600-67174800	Weak transcription	HepG2	liver
22	chr14:67158000-67158200	Enhancers	Lung	lung
23	chr14:67162000-67163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:67166600-67168200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:67166600-67170600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:67167800-67168200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:67168000-67168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:67168200-67168400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:67168200-67168400	ZNF genes & repeats	Esophagus	oesophagus
30	chr14:67168200-67168600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:67168200-67168600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:67168200-67168600	Enhancers	NHEK	skin
33	chr14:67168200-67168800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:67168200-67168800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:67168200-67168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:67168200-67168800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr14:67168200-67168800	ZNF genes & repeats	Lung	lung
38	chr14:67168200-67169000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:67168200-67169000	Enhancers	HMEC	breast
40	chr14:67168400-67168600	Enhancers	Esophagus	oesophagus
41	chr14:67168400-67168600	Enhancers	Pancreas	Pancrea
42	chr14:67168400-67168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:67168800-67170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:67168800-67171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:67169000-67176000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:67172600-67172800	Weak transcription	Liver	Liver
47	chr14:67173000-67173200	ZNF genes & repeats	Psoas Muscle	Psoas
48	chr14:67174200-67174400	Enhancers	Gastric	stomach
49	chr14:67174200-67174400	Enhancers	Ovary	ovary
50	chr14:67174400-67176800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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