Variant report

Variant	nsv565245
Chromosome Location	chr14:79162573-79165217
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	CTCF	chr14:79163860-79164010	GM12875	blood:	n/a	chr14:79163887-79163908
2	CTCF	chr14:79163829-79163975	GM10266	blood:	n/a	chr14:79163887-79163908
3	CTCF	chr14:79163820-79163970	GM12864	blood:	n/a	chr14:79163887-79163908
4	CTCF	chr14:79163860-79164010	BE2_C	brain:	n/a	chr14:79163887-79163908
5	CTCF	chr14:79163800-79163950	NHLF	lung:	n/a	chr14:79163887-79163908
6	CTCF	chr14:79163860-79164010	BJ	skin:	n/a	chr14:79163887-79163908
7	CTCF	chr14:79163820-79163970	AG04450	lung:	n/a	chr14:79163887-79163908
8	CTCF	chr14:79163780-79163930	HVMF	connective:	n/a	chr14:79163887-79163908
9	CTCF	chr14:79163860-79164010	NHEK	skin:	n/a	chr14:79163887-79163908
10	CTCF	chr14:79163800-79163950	HUVEC	blood vessel:	n/a	chr14:79163887-79163908
11	CTCF	chr14:79163860-79164010	GM12873	blood:	n/a	chr14:79163887-79163908
12	CTCF	chr14:79163840-79163990	GM12865	blood:	n/a	chr14:79163887-79163908
13	CTCF	chr14:79163780-79163930	GM12869	blood:	n/a	chr14:79163887-79163908
14	CTCF	chr14:79163840-79163990	HA-sp	spinal cord:	n/a	chr14:79163887-79163908
15	CTCF	chr14:79163820-79163970	MCF-7	breast:	n/a	chr14:79163887-79163908
16	CTCF	chr14:79163820-79163970	HCM	heart:	n/a	chr14:79163887-79163908
17	CTCF	chr14:79163800-79163950	HepG2	liver:	n/a	chr14:79163887-79163908
18	CTCF	chr14:79163836-79163985	ProgFib	skin:	n/a	chr14:79163887-79163908
19	CTCF	chr14:79163900-79163924	GM20000	blood:	n/a	n/a
20	CTCF	chr14:79163800-79163950	HFF-Myc	foreskin:	n/a	chr14:79163887-79163908
21	CTCF	chr14:79163820-79163970	GM12873	blood:	n/a	chr14:79163887-79163908
22	CTCF	chr14:79163840-79163990	HPAF	blood vessel:	n/a	chr14:79163887-79163908
23	CTCF	chr14:79164217-79164292	GM13976	blood:	n/a	n/a
24	CTCF	chr14:79163580-79163730	A549	lung:	n/a	n/a
25	CTCF	chr14:79163822-79163967	SK-N-SH_RA	brain:	n/a	chr14:79163887-79163908
26	CTCF	chr14:79163860-79164010	HEEpiC	esophagus:	n/a	chr14:79163887-79163908
27	CTCF	chr14:79163840-79163990	GM12878	blood:	n/a	chr14:79163887-79163908
28	CTCF	chr14:79163840-79163990	GM12801	blood:	n/a	chr14:79163887-79163908
29	CTCF	chr14:79163787-79164030	LNCaP	prostate:	n/a	chr14:79163887-79163908
30	CTCF	chr14:79163820-79163970	HAc	cerebellar:	n/a	chr14:79163887-79163908
31	CTCF	chr14:79163860-79164010	HRPEpiC	eye:	n/a	chr14:79163887-79163908
32	CTCF	chr14:79163840-79163990	GM12870	blood:	n/a	chr14:79163887-79163908
33	CTCF	chr14:79163799-79164003	GM10248	blood:	n/a	chr14:79163887-79163908
34	CTCF	chr14:79163780-79163930	AG09309	skin:	n/a	chr14:79163887-79163908
35	CTCF	chr14:79163820-79163970	GM12865	blood:	n/a	chr14:79163887-79163908
36	CTCF	chr14:79163880-79164030	K562	blood:	n/a	chr14:79163887-79163908
37	CTCF	chr14:79163825-79163999	HepG2	liver:	n/a	chr14:79163887-79163908
38	CTCF	chr14:79163829-79163997	GM13976	blood:	n/a	chr14:79163887-79163908
39	CTCF	chr14:79163592-79164270	SK-N-SH	brain:	n/a	chr14:79163887-79163908
40	CTCF	chr14:79163820-79163970	HPF	lung:	n/a	chr14:79163887-79163908
41	CTCF	chr14:79163820-79163970	HEEpiC	esophagus:	n/a	chr14:79163887-79163908
42	CTCF	chr14:79163820-79163970	AoAF	blood vessel:	n/a	chr14:79163887-79163908
43	CTCF	chr14:79163840-79163990	BJ	skin:	n/a	chr14:79163887-79163908
44	CTCF	chr14:79163820-79163970	Hela-S3	cervix:	n/a	chr14:79163887-79163908
45	CTCF	chr14:79163770-79164024	LNCaP	prostate:	n/a	chr14:79163887-79163908
46	CTCF	chr14:79163820-79163970	HBMEC	blood vessel:	n/a	chr14:79163887-79163908
47	CTCF	chr14:79163782-79164009	K562	blood:	n/a	chr14:79163887-79163908
48	CTCF	chr14:79163768-79164026	GM12878	blood:	n/a	chr14:79163887-79163908
49	CTCF	chr14:79163795-79163997	GM13977	blood:	n/a	chr14:79163887-79163908
50	CTCF	chr14:79163800-79163950	GM12868	blood:	n/a	chr14:79163887-79163908

No.	Distal block	Cell Line	Cell type
1	chr14:78914156..78915026-chr14:79163475..79164182,2	MCF-7	breast:
2	chr14:78630320..78630924-chr14:79163432..79164245,2	MCF-7	breast:
3	chr14:78488036..78488630-chr14:79163630..79164376,2	K562	blood:
4	chr14:79064098..79065061-chr14:79163439..79164257,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNW1-2	chr14:79164218-79164465	ENSG00000258719.1

Variant related genes	Relation type
NRXN3	TF binding region
ENSG00000258719	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535289770	chr14:79162830-79162831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372256705	chr14:79162872-79162873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141644619	chr14:79162897-79162898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577921968	chr14:79162905-79162906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150531897	chr14:79162923-79162924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557432382	chr14:79162956-79162957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs8011702	chr14:79162967-79162968	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543173380	chr14:79162968-79162969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559485792	chr14:79163006-79163007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146850653	chr14:79163523-79163524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531130037	chr14:79163584-79163585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553215535	chr14:79163590-79163591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs572949481	chr14:79163591-79163592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs7148807	chr14:79163592-79163593	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558761471	chr14:79163595-79163596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575171715	chr14:79163596-79163597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544133486	chr14:79163681-79163682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144531112	chr14:79163729-79163730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529661253	chr14:79163770-79163771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375104025	chr14:79163842-79163843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs57666394	chr14:79163843-79163844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190272391	chr14:79163864-79163865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532274578	chr14:79163885-79163886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181473648	chr14:79163908-79163909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550712563	chr14:79163915-79163916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs184976175	chr14:79163940-79163941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146643800	chr14:79163945-79163946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551314185	chr14:79163979-79163980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188413581	chr14:79164000-79164001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555404866	chr14:79164039-79164040	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536255873	chr14:79164080-79164081	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114549074	chr14:79164082-79164083	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566845802	chr14:79164088-79164089	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs539147590	chr14:79164100-79164101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs180969301	chr14:79164110-79164111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575110913	chr14:79164113-79164114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544072026	chr14:79164126-79164127	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554445593	chr14:79164138-79164139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541825876	chr14:79164172-79164173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111277804	chr14:79164193-79164194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75367833	chr14:79164211-79164212	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10136951	chr14:79164247-79164248	Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149135023	chr14:79164264-79164265	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs61977061	chr14:79164282-79164283	Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572522955	chr14:79164295-79164296	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs185006225	chr14:79164304-79164305	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs565445476	chr14:79164344-79164345	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs12892920	chr14:79164368-79164369	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61977072	chr14:79164370-79164371	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567973172	chr14:79164402-79164403	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79164000-79164800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:79164200-79164800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:79164200-79165000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:79164400-79165000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:79164400-79165000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr14:79164800-79167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:79165000-79176800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:79165000-79181000	Weak transcription	Brain Inferior Temporal Lobe	brain

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