Variant report

Variant	nsv564655
Chromosome Location	chr14:44420587-44455144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
2	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
3	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229771	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1951558	chr14:44420587-44420588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373305648	chr14:44420648-44420649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114859883	chr14:44420674-44420675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376441018	chr14:44420675-44420676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190202444	chr14:44420686-44420687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147741722	chr14:44420695-44420696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565379051	chr14:44420706-44420707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142653057	chr14:44420769-44420770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557151749	chr14:44420788-44420789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368850255	chr14:44420831-44420832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575430085	chr14:44420839-44420840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182495337	chr14:44420984-44420985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186230004	chr14:44420992-44420993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574083665	chr14:44421021-44421022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541498059	chr14:44421030-44421031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559903451	chr14:44421072-44421073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12882628	chr14:44421161-44421162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146660809	chr14:44421170-44421171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531993946	chr14:44421190-44421191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563947318	chr14:44421196-44421197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531108138	chr14:44421207-44421208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74330686	chr14:44421262-44421263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7145518	chr14:44421290-44421291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35639970	chr14:44421309-44421310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528089705	chr14:44421310-44421311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546259267	chr14:44421392-44421393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567570006	chr14:44421525-44421526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570986011	chr14:44421550-44421551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547142746	chr14:44421562-44421563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184241261	chr14:44421575-44421576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548608081	chr14:44421661-44421662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72678649	chr14:44421695-44421696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187910309	chr14:44421710-44421711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147932306	chr14:44421716-44421717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567631063	chr14:44421741-44421742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550472105	chr14:44421746-44421747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535039895	chr14:44421841-44421842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562102802	chr14:44421937-44421938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553432257	chr14:44421960-44421961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143706505	chr14:44421995-44421996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373138891	chr14:44422042-44422043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545530375	chr14:44422072-44422073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557226822	chr14:44422101-44422102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575802596	chr14:44422127-44422128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17278684	chr14:44422137-44422138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561266381	chr14:44422138-44422139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528784907	chr14:44422152-44422153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539823533	chr14:44422259-44422260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564581455	chr14:44422309-44422310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371006042	chr14:44422350-44422351	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44419200-44422200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:44422200-44422400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr14:44425600-44427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:44443800-44444200	Enhancers	Fetal Brain Male	brain
5	chr14:44447800-44448000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:44448000-44449800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:44450400-44450800	Enhancers	Fetal Intestine Small	intestine
8	chr14:44450400-44451200	Enhancers	Liver	Liver
9	chr14:44450400-44451200	Enhancers	Fetal Intestine Large	intestine
10	chr14:44450600-44451200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr14:44450600-44451200	Enhancers	HepG2	liver
12	chr14:44450800-44451400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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