Variant report

Variant	nsv979836
Chromosome Location	chr3:54659941-54661074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
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	E2F6	chr3:54661046-54661748	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr3:54660804-54660940	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:54660743-54660937	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:54660237-54660643	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:54660181-54660688	GM12892	blood:	n/a	n/a
6	POLR2A	chr3:54660269-54660539	GM12892	blood:	n/a	n/a
7	POLR2A	chr3:54660257-54660667	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:54660701-54668630	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:54660715-54668675	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:54660423-54660494	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:54660195-54670208	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr3:54660000-54660005	MCF10A-Er-Src	breast:	n/a	n/a
13	ZBTB33	chr3:54660267-54660763	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:54659987-54660037	AG09309	skin:	n/a
2	chr3:54660332-54660382	HRPEpiC	eye:	n/a
3	chr3:54660332-54660382	HL-60	blood:	n/a
4	chr3:54660332-54660382	HUVEC	blood vessel:	n/a
5	chr3:54660934-54660984	HCM	heart:	n/a
6	chr3:54660532-54660582	HepG2	liver:	n/a
7	chr3:54660332-54660382	HCF	heart:	n/a
8	chr3:54659987-54660037	HCF	heart:	n/a
9	chr3:54660934-54660984	HMEC	breast:	n/a
10	chr3:54660438-54660488	MCF10A-Er-Src	breast:	n/a
11	chr3:54660438-54660488	NHDF-neo	bronchial:	n/a
12	chr3:54659987-54660037	HCM	heart:	n/a
13	chr3:54660532-54660582	BE2_C	brain:	n/a
14	chr3:54660532-54660582	Hela-S3	cervix:	n/a
15	chr3:54659987-54660037	GM12891	blood:	n/a
16	chr3:54660934-54660984	LNCaP	prostate:	n/a
17	chr3:54660438-54660488	GM19239	blood:	n/a
18	chr3:54660332-54660382	HRE	kidney:	n/a
19	chr3:54660532-54660582	GM12878	blood:	n/a
20	chr3:54660934-54660984	HEEpiC	esophagus:	n/a
21	chr3:54660934-54660984	ECC-1	luminal epithelium:	n/a
22	chr3:54660532-54660582	HMEC	breast:	n/a
23	chr3:54660532-54660582	HCF	heart:	n/a
24	chr3:54659987-54660037	HNPCEpiC	eye:	n/a
25	chr3:54660332-54660382	NB4	blood:	n/a
26	chr3:54660332-54660382	K562	blood:	n/a
27	chr3:54660532-54660582	MCF-7	breast:	n/a
28	chr3:54660532-54660582	GM12891	blood:	n/a
29	chr3:54660332-54660382	HAEpiC	amniotic membrane:	n/a
30	chr3:54659987-54660037	ECC-1	luminal epithelium:	n/a
31	chr3:54660332-54660382	MCF10A-Er-Src	breast:	n/a
32	chr3:54660332-54660382	ProgFib	skin:	n/a
33	chr3:54660332-54660382	HepG2	liver:	n/a
34	chr3:54660438-54660488	Hepatocyte	liver:	n/a
35	chr3:54660934-54660984	GM12878	blood:	n/a
36	chr3:54660438-54660488	HepG2	liver:	n/a
37	chr3:54660438-54660488	ECC-1	luminal epithelium:	n/a
38	chr3:54660438-54660488	CMK	blood:	n/a
39	chr3:54660934-54660984	Hepatocyte	liver:	n/a
40	chr3:54659987-54660037	SK-N-MC	brain:	n/a
41	chr3:54660438-54660488	AoSMC	blood vessel:	n/a
42	chr3:54660332-54660382	AoSMC	blood vessel:	n/a
43	chr3:54659987-54660037	LNCaP	prostate:	n/a
44	chr3:54660934-54660984	GM06990	blood:	n/a
45	chr3:54659987-54660037	RPTEC	kidney:	n/a
46	chr3:54660438-54660488	ovcar-3	ovarian:	n/a
47	chr3:54660332-54660382	Hepatocyte	liver:	n/a
48	chr3:54660438-54660488	Jurkat	blood:	n/a
49	chr3:54660532-54660582	GM06990	blood:	n/a
50	chr3:54660332-54660382	AG04449	skin:	fetal

No data

Variant related genes	Relation type
RPS15P5	TF binding region
RPS15P5	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116068882	chr3:54659987-54659988	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs544694434	chr3:54659991-54659992	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs193135069	chr3:54660006-54660007	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs202170390	chr3:54660014-54660015	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs537962335	chr3:54660020-54660021	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs2030396	chr3:54660089-54660090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561456625	chr3:54660109-54660110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530396638	chr3:54660122-54660123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77875113	chr3:54660135-54660136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570055767	chr3:54660138-54660139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532504945	chr3:54660147-54660148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552705132	chr3:54660185-54660186	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568177643	chr3:54660226-54660227	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145134095	chr3:54660235-54660236	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147586179	chr3:54660266-54660267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141786838	chr3:54660269-54660270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567479259	chr3:54660275-54660276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs595993	chr3:54660276-54660277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111356988	chr3:54660279-54660280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557539755	chr3:54660320-54660321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188367726	chr3:54660343-54660344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558391813	chr3:54660358-54660359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191268956	chr3:54660402-54660403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541291856	chr3:54660420-54660421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561529493	chr3:54660424-54660425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530366958	chr3:54660457-54660458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577713702	chr3:54660458-54660459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs595040	chr3:54660469-54660470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs62255536	chr3:54660472-54660473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552569211	chr3:54660475-54660476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150029814	chr3:54660496-54660497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369007839	chr3:54660500-54660501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547324482	chr3:54660514-54660515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567448478	chr3:54660518-54660519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536001608	chr3:54660532-54660533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556042737	chr3:54660544-54660545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569587897	chr3:54660600-54660601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183753629	chr3:54660622-54660623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558502879	chr3:54660623-54660624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572091195	chr3:54660626-54660627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541111110	chr3:54660631-54660632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554326817	chr3:54660633-54660634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375291671	chr3:54660664-54660665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56209938	chr3:54660686-54660687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs3198481	chr3:54660706-54660707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1135664	chr3:54660709-54660710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147481753	chr3:54660712-54660713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544001071	chr3:54660726-54660727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56012825	chr3:54660727-54660728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs71096430	chr3:54660735-54660736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	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
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54651000-54666400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:54652800-54665000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:54654000-54667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:54654800-54662400	Weak transcription	Right Atrium	heart
5	chr3:54655000-54662400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:54655600-54662800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:54658800-54662800	Weak transcription	Ovary	ovary
8	chr3:54659200-54664600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:54659800-54660400	Enhancers	Esophagus	oesophagus
10	chr3:54659800-54662800	Weak transcription	Brain Anterior Caudate	brain
11	chr3:54659800-54664400	Weak transcription	Spleen	Spleen
12	chr3:54660400-54663000	Weak transcription	Esophagus	oesophagus
13	chr3:54660400-54666800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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