Variant report

Variant	nsv1342
Chromosome Location	chr14:72260578-72305563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72260662..72262316-chr14:72269618..72272194,2	MCF-7	breast:
2	chr14:72271226..72271774-chr14:72399025..72399531,2	MCF-7	breast:
3	chr14:72260662..72262316-chr14:72269618..72272194,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552415916	chr14:72265004-72265005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561880573	chr14:72265025-72265026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190904395	chr14:72265048-72265049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548659628	chr14:72265089-72265090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576321823	chr14:72265138-72265139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566912093	chr14:72265145-72265146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527666000	chr14:72265154-72265155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552577340	chr14:72265194-72265195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553294537	chr14:72265233-72265234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533825115	chr14:72265244-72265245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571178325	chr14:72265264-72265265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80108013	chr14:72265288-72265289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397765307	chr14:72265289-72265290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75932997	chr14:72265291-72265292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78826199	chr14:72265340-72265341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377486280	chr14:72265362-72265363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114126815	chr14:72265411-72265412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77726974	chr14:72265503-72265504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568637297	chr14:72265513-72265514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76091202	chr14:72265532-72265533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553437975	chr14:72265691-72265692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555531497	chr14:72265721-72265722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113203817	chr14:72265790-72265791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376431408	chr14:72265791-72265792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3028121	chr14:72265792-72265793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200481744	chr14:72265793-72265794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35439085	chr14:72265802-72265803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571733551	chr14:72265815-72265816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72732315	chr14:72265871-72265872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs5809533	chr14:72265919-72265920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1343922	chr14:72265949-72265950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs34131199	chr14:72265966-72265967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183888784	chr14:72265998-72265999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543654679	chr14:72266043-72266044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186013553	chr14:72266097-72266098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529076459	chr14:72266118-72266119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138758118	chr14:72266121-72266122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190915192	chr14:72266145-72266146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74958411	chr14:72266238-72266239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199718108	chr14:72266260-72266261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149361703	chr14:72266278-72266279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570814707	chr14:72266292-72266293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78973912	chr14:72266297-72266298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550443394	chr14:72266336-72266337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370883546	chr14:72266352-72266353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568597465	chr14:72266384-72266385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77356300	chr14:72266407-72266408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564430486	chr14:72266445-72266446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144671309	chr14:72266478-72266479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539103114	chr14:72266480-72266481	Enhancers 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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72265000-72268200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:72265200-72267200	Enhancers	Fetal Stomach	stomach
3	chr14:72265400-72266200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:72265400-72266200	Enhancers	Lung	lung
5	chr14:72265400-72266200	Enhancers	Spleen	Spleen
6	chr14:72265600-72266000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:72265800-72266200	Enhancers	Placenta	Placenta
8	chr14:72265800-72266600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:72265800-72267000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:72266000-72266200	Enhancers	A549	lung
11	chr14:72266000-72266200	Enhancers	NHLF	lung
12	chr14:72266000-72266400	Enhancers	Colon Smooth Muscle	Colon
13	chr14:72266000-72266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:72266000-72266800	Enhancers	Brain Hippocampus Middle	brain
15	chr14:72266000-72267000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72266000-72270200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:72266200-72273600	Weak transcription	Lung	lung
18	chr14:72266600-72270000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:72266600-72270000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:72266800-72267000	Enhancers	NHLF	lung
21	chr14:72267000-72270400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:72267600-72268400	Enhancers	Dnd41	blood
23	chr14:72268200-72269200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:72269200-72269400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:72269200-72270000	Enhancers	Hela-S3	cervix
26	chr14:72269400-72269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:72269800-72272400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:72270000-72270400	Flanking Active TSS	Hela-S3	cervix
29	chr14:72270000-72271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:72270000-72271400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:72270000-72271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:72270000-72271600	Enhancers	HUVEC	blood vessel
33	chr14:72270200-72270600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:72270200-72271000	Enhancers	HMEC	breast
35	chr14:72270200-72271200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:72270200-72271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:72270200-72271400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:72270200-72271400	Enhancers	A549	lung
39	chr14:72270200-72271600	Enhancers	Osteobl	bone
40	chr14:72270200-72272000	Enhancers	NH-A	brain
41	chr14:72270400-72270600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:72270400-72270600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:72270400-72270800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:72270400-72270800	Enhancers	Hela-S3	cervix
45	chr14:72270400-72271400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr14:72270400-72272000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:72270400-72272000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:72270800-72271000	Flanking Active TSS	Hela-S3	cervix
49	chr14:72270800-72271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:72270800-72271600	Enhancers	HUES64 Cell Line	embryonic stem cell

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