Variant report

Variant	nsv564625
Chromosome Location	chr14:43460115-43490932
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43488710..43489609-chr14:44233482..44234148,2	MCF-7	breast:
2	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:
3	chr14:43461882..43464212-chr3:67277792..67280418,2	MCF-7	breast:
4	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
5	chr14:43485354..43487557-chr14:44249590..44251504,2	MCF-7	breast:
6	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:
7	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
8	chr14:42693266..42693778-chr14:43474779..43475522,2	MCF-7	breast:
9	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:

No data

Extended variants
information (count: 221 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80186827	chr14:43462229-43462230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558554619	chr14:43462236-43462237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76095219	chr14:43462246-43462247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185644037	chr14:43462279-43462280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538095930	chr14:43462292-43462293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4540978	chr14:43462299-43462300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11851553	chr14:43462319-43462320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533299228	chr14:43462320-43462321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116503869	chr14:43462324-43462325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573197794	chr14:43462356-43462357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115599867	chr14:43462374-43462375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564908017	chr14:43462392-43462393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563136662	chr14:43462397-43462398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77784674	chr14:43462403-43462404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546757077	chr14:43462432-43462433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556042280	chr14:43462522-43462523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71105496	chr14:43462537-43462538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530239396	chr14:43462538-43462539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562612360	chr14:43462539-43462540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529719812	chr14:43462548-43462549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397852075	chr14:43462553-43462554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565896745	chr14:43462562-43462563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535022530	chr14:43462563-43462564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369987493	chr14:43462571-43462572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552441537	chr14:43462639-43462640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570561480	chr14:43462644-43462645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10139713	chr14:43462646-43462647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190753574	chr14:43462664-43462665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567088370	chr14:43462708-43462709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10150604	chr14:43462715-43462716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535550585	chr14:43462728-43462729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142072042	chr14:43462748-43462749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555901150	chr14:43462757-43462758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540574595	chr14:43462771-43462772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569579435	chr14:43462780-43462781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1628594	chr14:43462813-43462814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1628617	chr14:43462816-43462817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367868055	chr14:43462880-43462881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577167924	chr14:43462883-43462884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17113742	chr14:43462889-43462890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562316546	chr14:43462897-43462898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145819675	chr14:43462904-43462905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145826335	chr14:43462916-43462917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560351527	chr14:43462943-43462944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79920208	chr14:43462944-43462945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10142374	chr14:43462978-43462979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10130059	chr14:43462991-43462992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76728514	chr14:43463004-43463005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192095508	chr14:43463086-43463087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568342320	chr14:43463125-43463126	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43462200-43463600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:43462400-43463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:43462800-43464200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:43463600-43464000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:43464000-43464200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:43470800-43471400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr14:43472600-43473600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr14:43472800-43474200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr14:43473200-43474200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:43473400-43473600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr14:43473400-43473600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr14:43473600-43473800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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