Variant report

Variant	nsv1041759
Chromosome Location	chr14:72612882-72628815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72621480..72622247-chr14:72887274..72888062,2	MCF-7	breast:
2	chr14:72621301..72622101-chr14:72887197..72887727,2	MCF-7	breast:
3	chr14:72621837..72624302-chr14:72634079..72635792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 678 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547559147	chr14:72612958-72612959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111605850	chr14:72612968-72612969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10142058	chr14:72612981-72612982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2332802	chr14:72612993-72612994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs569642688	chr14:72613001-72613002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4584763	chr14:72613027-72613028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113669741	chr14:72613036-72613037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548738886	chr14:72613056-72613057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567346625	chr14:72613096-72613097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560230414	chr14:72613145-72613146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184518528	chr14:72613166-72613167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553903913	chr14:72613183-72613184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142494732	chr14:72613220-72613221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115383718	chr14:72613222-72613223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113163801	chr14:72613247-72613248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72719850	chr14:72613267-72613268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543782502	chr14:72613277-72613278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561978856	chr14:72613279-72613280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574074770	chr14:72613280-72613281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34600660	chr14:72613396-72613397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559548045	chr14:72613400-72613401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140358851	chr14:72613449-72613450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545251420	chr14:72613463-72613464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563559005	chr14:72613471-72613472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114230933	chr14:72613538-72613539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548961302	chr14:72613569-72613570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567156109	chr14:72613595-72613596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35935219	chr14:72613699-72613700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531956082	chr14:72613717-72613718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528151499	chr14:72613723-72613724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546308386	chr14:72613779-72613780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549992622	chr14:72613791-72613792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565903529	chr14:72613879-72613880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186808839	chr14:72613888-72613889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557962272	chr14:72613909-72613910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570317560	chr14:72613925-72613926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7143078	chr14:72613949-72613950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555685869	chr14:72613951-72613952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573960112	chr14:72613975-72613976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541503846	chr14:72614010-72614011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144453937	chr14:72614016-72614017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578168717	chr14:72614024-72614025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545214705	chr14:72614041-72614042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563384992	chr14:72614101-72614102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530787609	chr14:72614102-72614103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542569043	chr14:72614103-72614104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117385493	chr14:72614116-72614117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147822710	chr14:72614147-72614148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546214067	chr14:72614148-72614149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566066091	chr14:72614153-72614154	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
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
lymphocytic leukemia	21291569	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72605400-72616400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72605600-72617400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72608000-72615600	Weak transcription	Left Ventricle	heart
4	chr14:72615600-72615800	Enhancers	Right Atrium	heart
5	chr14:72615600-72615800	Enhancers	Right Ventricle	heart
6	chr14:72615600-72616000	Enhancers	Left Ventricle	heart
7	chr14:72615800-72617800	Weak transcription	Right Atrium	heart
8	chr14:72616000-72617400	Weak transcription	Left Ventricle	heart
9	chr14:72616000-72618200	Weak transcription	Right Ventricle	heart
10	chr14:72616400-72617800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:72617400-72617600	Enhancers	Left Ventricle	heart
12	chr14:72617400-72618600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:72617600-72618200	Weak transcription	Left Ventricle	heart
14	chr14:72617800-72618400	Enhancers	Right Atrium	heart
15	chr14:72617800-72618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:72618200-72618400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:72618200-72618400	Enhancers	Right Ventricle	heart
18	chr14:72618200-72619200	Enhancers	Left Ventricle	heart
19	chr14:72618400-72619000	Weak transcription	Right Ventricle	heart
20	chr14:72618400-72620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:72618400-72621400	Weak transcription	Right Atrium	heart
22	chr14:72618600-72619400	Enhancers	Adipose Nuclei	Adipose
23	chr14:72618600-72620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:72619000-72619200	Enhancers	Right Ventricle	heart
25	chr14:72619200-72621600	Weak transcription	Left Ventricle	heart
26	chr14:72620000-72620200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:72620000-72620400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:72620400-72633400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:72621200-72623600	Enhancers	Adipose Nuclei	Adipose
30	chr14:72621400-72622200	Enhancers	Right Atrium	heart
31	chr14:72621400-72622800	Enhancers	GM12878-XiMat	blood
32	chr14:72621600-72622000	Enhancers	Left Ventricle	heart
33	chr14:72622000-72622800	Enhancers	Fetal Muscle Leg	muscle
34	chr14:72622000-72622800	Weak transcription	Left Ventricle	heart
35	chr14:72622800-72623600	Enhancers	Left Ventricle	heart
36	chr14:72623400-72624200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:72623600-72624800	Weak transcription	Left Ventricle	heart
38	chr14:72624200-72624400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:72624200-72638600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:72624400-72629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:72624800-72625000	Enhancers	Left Ventricle	heart
42	chr14:72626000-72626200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr14:72626200-72626400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:72626200-72645800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:72626400-72629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:72628000-72629600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:72628400-72629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:72628600-72629000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:72628600-72629400	Enhancers	HUES6 Cell Line	embryonic stem cell

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