Variant report

Variant	nsv974347
Chromosome Location	chr14:65062237-65068257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:245)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr14:65065124-65065386	GM12878	blood:	n/a	n/a
2	BATF	chr14:65065161-65065359	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:65065076-65065511	GM12878	blood:	n/a	n/a
4	CTCF	chr14:65063040-65063190	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr14:65068030-65068068	GM10248	blood:	n/a	n/a
6	EP300	chr14:65065223-65065361	GM12878	blood:	n/a	n/a
7	FOS	chr14:65063293-65063369	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr14:65065239-65065419	GM12878	blood:	n/a	n/a
9	SPI1	chr14:65065211-65065478	GM12878	blood:	n/a	n/a
10	SPI1	chr14:65065195-65065518	GM12891	blood:	n/a	n/a
11	SPI1	chr14:65064919-65065590	GM12878	blood:	n/a	n/a
12	SPI1	chr14:65065127-65065477	GM12891	blood:	n/a	n/a
13	STAT3	chr14:65065280-65065443	GM12878	blood:	n/a	chr14:65065334-65065342

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65066517-65066567	AG09309	skin:	n/a
2	chr14:65066517-65066567	AG09309	skin:	n/a
3	chr14:65066517-65066567	ProgFib	skin:	n/a
4	chr14:65066517-65066567	AoSMC	blood vessel:	n/a
5	chr14:65066517-65066567	MCF-7	breast:	n/a
6	chr14:65066517-65066567	ECC-1	luminal epithelium:	n/a
7	chr14:65066517-65066567	HCPEpiC	choroid plexus:	n/a
8	chr14:65066517-65066567	U87	brain:	n/a
9	chr14:65066517-65066567	SK-N-SH	brain:	n/a
10	chr14:65067858-65067908	HAEpiC	amniotic membrane:	n/a
11	chr14:65067858-65067908	HepG2	liver:	n/a
12	chr14:65065830-65065880	GM19239	blood:	n/a
13	chr14:65066622-65066672	HAEpiC	amniotic membrane:	n/a
14	chr14:65067858-65067908	U87	brain:	n/a
15	chr14:65066517-65066567	HEEpiC	esophagus:	n/a
16	chr14:65067858-65067908	SK-N-SH	brain:	n/a
17	chr14:65067858-65067908	AG04449	skin:	fetal
18	chr14:65066517-65066567	BE2_C	brain:	n/a
19	chr14:65066622-65066672	NB4	blood:	n/a
20	chr14:65067858-65067908	SK-N-MC	brain:	n/a
21	chr14:65067858-65067908	SKMC	muscle:	n/a
22	chr14:65066622-65066672	GM12878	blood:	n/a
23	chr14:65066622-65066672	RPTEC	kidney:	n/a
24	chr14:65067858-65067908	IMR90	lung:	fetal
25	chr14:65066517-65066567	HNPCEpiC	eye:	n/a
26	chr14:65066517-65066567	AG10803	skin:	n/a
27	chr14:65067858-65067908	AG09309	skin:	n/a
28	chr14:65066622-65066672	PrEC	prostate:	n/a
29	chr14:65066622-65066672	Caco-2	colon:	n/a
30	chr14:65066622-65066672	HRPEpiC	eye:	n/a
31	chr14:65066517-65066567	HRCEpiC	kidney:	n/a
32	chr14:65065830-65065880	NT2-D1	testis:	n/a
33	chr14:65066517-65066567	MCF10A-Er-Src	breast:	n/a
34	chr14:65066517-65066567	HCF	heart:	n/a
35	chr14:65065830-65065880	SK-N-MC	brain:	n/a
36	chr14:65066622-65066672	HCM	heart:	n/a
37	chr14:65066622-65066672	GM19239	blood:	n/a
38	chr14:65065830-65065880	GM12878	blood:	n/a
39	chr14:65065830-65065880	U87	brain:	n/a
40	chr14:65067858-65067908	GM12878	blood:	n/a
41	chr14:65066517-65066567	HRPEpiC	eye:	n/a
42	chr14:65065830-65065880	GM12891	blood:	n/a
43	chr14:65065830-65065880	HUVEC	blood vessel:	n/a
44	chr14:65065830-65065880	H1-hESC	embryonic stem cell:	embryo
45	chr14:65067858-65067908	ovcar-3	ovarian:	n/a
46	chr14:65067858-65067908	HEEpiC	esophagus:	n/a
47	chr14:65065830-65065880	MCF10A-Er-Src	breast:	n/a
48	chr14:65067858-65067908	RPTEC	kidney:	n/a
49	chr14:65067858-65067908	HCPEpiC	choroid plexus:	n/a
50	chr14:65066517-65066567	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65006378..65008389-chr14:65060935..65063118,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB25-4	chr14:65063180-65063254	ENSG00000259076.1
2	lnc-ZBTB25-4	chr14:65063180-65063231	ENSG00000259076.1

No data

Variant related genes	Relation type
ENSG00000259076	TF binding region
ENSG00000259076	CpG island
ENSG00000259116	chromatin interactions
ENSG00000126803	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78977997	chr14:65062263-65062264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533987311	chr14:65062300-65062301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs137903028	chr14:65062355-65062356	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573663164	chr14:65062356-65062357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542645707	chr14:65062585-65062586	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148116867	chr14:65062586-65062587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556416692	chr14:65062592-65062593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570487800	chr14:65062620-65062621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190017554	chr14:65062624-65062625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142368436	chr14:65062644-65062645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572604437	chr14:65062684-65062685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540743501	chr14:65062708-65062709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560981592	chr14:65062719-65062720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181092041	chr14:65062722-65062723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146385650	chr14:65062776-65062777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563575125	chr14:65062824-65062825	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185781860	chr14:65062836-65062837	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552446413	chr14:65062881-65062882	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188147762	chr14:65062887-65062888	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549170970	chr14:65062905-65062906	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534831331	chr14:65062948-65062949	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201483772	chr14:65063030-65063031	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139412330	chr14:65063040-65063041	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150025631	chr14:65063041-65063042	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs536241553	chr14:65063046-65063047	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144362013	chr14:65063049-65063050	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576038405	chr14:65063053-65063054	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs561179222	chr14:65063220-65063221	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs73269771	chr14:65063221-65063222	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367946669	chr14:65063251-65063252	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs180994608	chr14:65063262-65063263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541646387	chr14:65063265-65063266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10134770	chr14:65063315-65063316	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs558172182	chr14:65063318-65063319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574634484	chr14:65063322-65063323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs543434811	chr14:65063323-65063324	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs186370100	chr14:65063450-65063451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532152758	chr14:65063507-65063508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552151025	chr14:65063531-65063532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559631026	chr14:65063535-65063536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74056334	chr14:65063590-65063591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142818199	chr14:65063606-65063607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548027790	chr14:65063659-65063660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17113852	chr14:65063699-65063700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546799483	chr14:65063725-65063726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567412710	chr14:65063811-65063812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559974656	chr14:65063826-65063827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536305712	chr14:65063835-65063836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9630388	chr14:65063922-65063923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549866224	chr14:65063925-65063926	Weak 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
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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
Intracranial arachnoid cysts	20187927	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65048800-65068400	Weak transcription	Pancreas	Pancrea
2	chr14:65058800-65062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:65061200-65062400	Enhancers	HepG2	liver
4	chr14:65062800-65063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:65065000-65065800	Enhancers	GM12878-XiMat	blood
6	chr14:65065000-65066200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:65065200-65065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:65065800-65068400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:65068200-65068400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr14:65068200-65068600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:65068200-65068600	Active TSS	Duodenum Smooth Muscle	Duodenum

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