Variant report

Variant	nsv1037584
Chromosome Location	chr14:43416580-43436392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:43414127..43415946-chr14:43415967..43417770,2	MCF-7	breast:
2	chr14:43410041..43412582-chr14:43414596..43418127,3	MCF-7	breast:
3	chr14:43415653..43418471-chr14:43420543..43423269,2	MCF-7	breast:
4	chr14:43429057..43431016-chr14:43435406..43438063,2	MCF-7	breast:
5	chr14:43401494..43403926-chr14:43416665..43419045,2	MCF-7	breast:
6	chr14:43415653..43418471-chr14:43420543..43423269,2	MCF-7	breast:
7	chr14:43429057..43431016-chr14:43435406..43438063,2	MCF-7	breast:

Extended variants
information (count: 482 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184523086	chr14:43422406-43422407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148882880	chr14:43422411-43422412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190255185	chr14:43422426-43422427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559180146	chr14:43422437-43422438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571208197	chr14:43422473-43422474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192564694	chr14:43422486-43422487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556854911	chr14:43422487-43422488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574777921	chr14:43422496-43422497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536559492	chr14:43422504-43422505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184951226	chr14:43422507-43422508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74049847	chr14:43422526-43422527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114193321	chr14:43422548-43422549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146582246	chr14:43422572-43422573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548497411	chr14:43422578-43422579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139125357	chr14:43422588-43422589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532315880	chr14:43422610-43422611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536822490	chr14:43422628-43422629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77877167	chr14:43422630-43422631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562595767	chr14:43422646-43422647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112073418	chr14:43422649-43422650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79685130	chr14:43422654-43422655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541066250	chr14:43422657-43422658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547843150	chr14:43422674-43422675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560228636	chr14:43422680-43422681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189697656	chr14:43422688-43422689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552844132	chr14:43422709-43422710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74049848	chr14:43422726-43422727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538393624	chr14:43422728-43422729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180779775	chr14:43422729-43422730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140845435	chr14:43422766-43422767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535873624	chr14:43422771-43422772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150140318	chr14:43422785-43422786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79689180	chr14:43422795-43422796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183761367	chr14:43422812-43422813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116694626	chr14:43422822-43422823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576632428	chr14:43422828-43422829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543976666	chr14:43422853-43422854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7151986	chr14:43422869-43422870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2255461	chr14:43422908-43422909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373824269	chr14:43422914-43422915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541839102	chr14:43422924-43422925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559882852	chr14:43422936-43422937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7152464	chr14:43422937-43422938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552303095	chr14:43422958-43422959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377501354	chr14:43427810-43427811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538147634	chr14:43427815-43427816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185153651	chr14:43427823-43427824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146530675	chr14:43427832-43427833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370111625	chr14:43427856-43427857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535428119	chr14:43427882-43427883	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43422400-43422800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:43422600-43423000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:43427800-43428400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:43428000-43428200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:43428000-43428400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:43428200-43434600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:43434200-43434800	Enhancers	Brain Angular Gyrus	brain
8	chr14:43434400-43434800	Enhancers	Brain Substantia Nigra	brain
9	chr14:43434400-43435000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:43434600-43434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:43434600-43435000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:43434600-43435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:43434600-43436400	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:43434800-43435200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:43435000-43435400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:43435200-43435600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:43435400-43435800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:43435600-43436400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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