Variant report

Variant	nsv85392
Chromosome Location	chr14:32269881-32275120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr14:32272156-32272367	K562	blood:	n/a	n/a
2	MAFF	chr14:32272073-32272382	HepG2	liver:	n/a	n/a
3	MAFK	chr14:32272085-32272420	HepG2	liver:	n/a	n/a
4	MAFK	chr14:32272190-32272306	K562	blood:	n/a	n/a
5	MAFK	chr14:32272061-32272421	HepG2	liver:	n/a	n/a
6	MAFK	chr14:32272087-32272407	IMR90	lung:	n/a	n/a
7	ZNF274	chr14:32272234-32272263	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 232 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs187167832	chr14:32269884-32269885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76939393	chr14:32269915-32269916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7141477	chr14:32269942-32269943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567326300	chr14:32269986-32269987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113709690	chr14:32270014-32270015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372666497	chr14:32270024-32270025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575977782	chr14:32270062-32270063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7156907	chr14:32270081-32270082	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539388319	chr14:32270089-32270090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74043629	chr14:32270109-32270110	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs36095275	chr14:32270129-32270130	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553826535	chr14:32270134-32270135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368747300	chr14:32270138-32270139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572195016	chr14:32270178-32270179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542417272	chr14:32270193-32270194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141784091	chr14:32270217-32270218	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573366914	chr14:32270264-32270265	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34753663	chr14:32270266-32270267	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116908452	chr14:32270267-32270268	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562522231	chr14:32270293-32270294	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533219412	chr14:32270308-32270309	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs61994431	chr14:32270373-32270374	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560585051	chr14:32270383-32270384	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371728049	chr14:32270391-32270392	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs60654485	chr14:32270428-32270429	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371263253	chr14:32270440-32270441	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549568194	chr14:32270448-32270449	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115581185	chr14:32270450-32270451	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531416945	chr14:32270468-32270469	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549928889	chr14:32270494-32270495	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571217684	chr14:32270518-32270519	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150622310	chr14:32270525-32270526	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369654801	chr14:32270544-32270545	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542264572	chr14:32270559-32270560	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs59284467	chr14:32270591-32270592	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10150198	chr14:32270607-32270608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs191101656	chr14:32270608-32270609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs80237938	chr14:32270615-32270616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73257280	chr14:32270651-32270652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373227260	chr14:32270669-32270670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182658455	chr14:32270702-32270703	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35540715	chr14:32270721-32270722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1430430	chr14:32270744-32270745	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186546335	chr14:32270772-32270773	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs527470683	chr14:32270985-32270986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560560126	chr14:32270988-32270989	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs1430429	chr14:32271013-32271014	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567839920	chr14:32271075-32271076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548912629	chr14:32271078-32271079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528985890	chr14:32271080-32271081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32244400-32270200	Weak transcription	Ovary	ovary
3	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:32250800-32270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:32251200-32272600	Weak transcription	Primary T cells from cord blood	blood
6	chr14:32257600-32272200	Weak transcription	Pancreas	Pancrea
7	chr14:32257600-32281200	Weak transcription	HepG2	liver
8	chr14:32258000-32270600	Weak transcription	Gastric	stomach
9	chr14:32263000-32287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:32266800-32281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:32268400-32271200	Strong transcription	Primary hematopoietic stem cells	blood
12	chr14:32268800-32270200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:32268800-32271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:32269000-32270600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:32269200-32270200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:32269400-32270200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:32270200-32270400	Enhancers	Ovary	ovary
18	chr14:32270200-32270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:32270200-32270600	ZNF genes & repeats	Aorta	Aorta
20	chr14:32270200-32270600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr14:32270200-32271000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:32270400-32270600	Weak transcription	Ovary	ovary
23	chr14:32270600-32281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:32271000-32271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:32271200-32273000	Weak transcription	Primary hematopoietic stem cells	blood

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