Variant report

Variant	nsv967018
Chromosome Location	chr3:68684918-68687051
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	chr3:68684892-68684998	GM20000	blood:	n/a	n/a
2	CTCF	chr3:68685637-68685680	GM10248	blood:	n/a	n/a
3	CTCF	chr3:68685975-68686110	GM10266	blood:	n/a	n/a
4	CTCF	chr3:68684940-68684989	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr3:68685207-68685275	GM20000	blood:	n/a	n/a
6	POLR2A	chr3:68685242-68685253	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:68685921-68685988	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:68685907-68685921	A549	lung:	n/a	n/a
9	POLR2A	chr3:68685838-68685871	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:68685465-68686104	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:68685526-68686026	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:68685856-68686353	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:68685218-68685420	ProgFib	skin:	n/a	n/a
14	POLR2A	chr3:68685902-68686058	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:68685665-68685722	HepG2	liver:	n/a	n/a
16	POU2F2	chr3:68685050-68685505	GM12878	blood:	n/a	n/a
17	USF1	chr3:68685135-68685329	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000244640	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11557330	chr3:68684975-68684976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564013047	chr3:68684997-68684998	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529508068	chr3:68685010-68685011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543271770	chr3:68685030-68685031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559475174	chr3:68685045-68685046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570103330	chr3:68685067-68685068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528160429	chr3:68685104-68685105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184532291	chr3:68685110-68685111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373012592	chr3:68685115-68685116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571181376	chr3:68685152-68685153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530463000	chr3:68685171-68685172	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550456151	chr3:68685182-68685183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376290763	chr3:68685187-68685188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs17028372	chr3:68685200-68685201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111274780	chr3:68685220-68685221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567248976	chr3:68685221-68685222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536020997	chr3:68685252-68685253	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs552712578	chr3:68685258-68685259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370196808	chr3:68685284-68685285	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112782828	chr3:68685287-68685288	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566573993	chr3:68685291-68685292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572144537	chr3:68685314-68685315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2047891	chr3:68685326-68685327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535074464	chr3:68685341-68685342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557982191	chr3:68685395-68685396	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577963616	chr3:68685425-68685426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs55751721	chr3:68685490-68685491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs143085341	chr3:68685499-68685500	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376311952	chr3:68685512-68685513	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557666958	chr3:68685562-68685563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372739746	chr3:68685564-68685565	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543358995	chr3:68685574-68685575	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559938597	chr3:68685618-68685619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376441291	chr3:68685626-68685627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573365643	chr3:68685668-68685669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs148208291	chr3:68685670-68685671	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564875829	chr3:68685673-68685674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530502320	chr3:68685691-68685692	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550194458	chr3:68685692-68685693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140115566	chr3:68685710-68685711	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs56212096	chr3:68685713-68685714	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150288366	chr3:68685719-68685720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs546496352	chr3:68685737-68685738	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs566622442	chr3:68685775-68685776	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538499036	chr3:68685798-68685799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs551852172	chr3:68685804-68685805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571678826	chr3:68685826-68685827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs187618443	chr3:68685843-68685844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557359196	chr3:68685849-68685850	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574085457	chr3:68685853-68685854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68683600-68693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:68686400-68686800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:68686400-68687400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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