Variant report

Variant	nsv1007609
Chromosome Location	chr3:163361926-163390354
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	CEBPB	chr3:163383116-163383374	Hela-S3	cervix:	n/a	chr3:163383292-163383303
2	CEBPB	chr3:163383149-163383396	K562	blood:	n/a	chr3:163383292-163383303
3	CEBPB	chr3:163383184-163383425	HepG2	liver:	n/a	chr3:163383292-163383303
4	CTCF	chr3:163384311-163384366	GM20000	blood:	n/a	n/a
5	CTCF	chr3:163385802-163385847	GM10266	blood:	n/a	n/a
6	E2F4	chr3:163362735-163362904	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr3:163366473-163366673	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr3:163379019-163379066	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr3:163385362-163385377	K562	blood:	n/a	n/a
10	EP300	chr3:163379706-163379813	K562	blood:	n/a	n/a
11	FOS	chr3:163382314-163382644	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr3:163389099-163389305	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr3:163382286-163382666	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr3:163389070-163389300	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr3:163382365-163382633	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr3:163389133-163389276	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr3:163378746-163378997	SH-SY5Y	brain:	n/a	chr3:163378926-163378942
18	GATA3	chr3:163378743-163379173	MCF-7	breast:	n/a	chr3:163379029-163379042 chr3:163378926-163378942
19	GATA3	chr3:163377804-163377923	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr3:163385700-163385807	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr3:163367356-163367494	SH-SY5Y	brain:	n/a	n/a
22	IRF1	chr3:163372217-163372456	K562	blood:	n/a	n/a
23	JUND	chr3:163368008-163368230	HepG2	liver:	n/a	chr3:163368106-163368118
24	MAFF	chr3:163389121-163389276	K562	blood:	n/a	n/a
25	MAFF	chr3:163374975-163375257	K562	blood:	n/a	chr3:163375069-163375087
26	MAFF	chr3:163369173-163369308	HepG2	liver:	n/a	chr3:163369239-163369257
27	MAFF	chr3:163374917-163375249	HepG2	liver:	n/a	chr3:163375069-163375087
28	MAFK	chr3:163369073-163369415	HepG2	liver:	n/a	chr3:163369243-163369257 chr3:163369240-163369255 chr3:163369244-163369255 chr3:163369240-163369256 chr3:163369244-163369255 chr3:163369236-163369253
29	MAFK	chr3:163374959-163375236	H1-hESC	embryonic stem cell:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
30	MAFK	chr3:163369185-163369383	HepG2	liver:	n/a	chr3:163369243-163369257 chr3:163369240-163369255 chr3:163369244-163369255 chr3:163369240-163369256 chr3:163369244-163369255 chr3:163369236-163369253
31	MAFK	chr3:163374959-163375235	K562	blood:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
32	MAFK	chr3:163374888-163375254	Hela-S3	cervix:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
33	MAFK	chr3:163379351-163379481	HepG2	liver:	n/a	chr3:163379401-163379410
34	MAFK	chr3:163374910-163375225	HepG2	liver:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
35	MAFK	chr3:163374920-163375246	IMR90	lung:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
36	MAFK	chr3:163374906-163375254	HepG2	liver:	n/a	chr3:163375070-163375086 chr3:163375073-163375087 chr3:163375070-163375085
37	MYC	chr3:163372759-163372915	MCF-7	breast:	n/a	n/a
38	MYC	chr3:163373119-163373180	MCF-7	breast:	n/a	n/a
39	MYC	chr3:163373082-163373194	MCF-7	breast:	n/a	n/a
40	NFYA	chr3:163374710-163374925	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:163373125-163373152	MCF-7	breast:	n/a	n/a
42	POLR2A	chr3:163372842-163372850	MCF-7	breast:	n/a	n/a
43	POLR2A	chr3:163378847-163379047	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr3:163364912-163364987	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:163372735-163373203	MCF-7	breast:	n/a	n/a
46	POLR2A	chr3:163382677-163382877	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:163380431-163380516	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:163372821-163372835	MCF-7	breast:	n/a	n/a
49	POLR2A	chr3:163368928-163369077	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:163372864-163373057	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163366953..163369523-chr3:163371535..163373205,2	K562	blood:
2	chr3:163369185..163370732-chr3:163383412..163385221,2	K562	blood:
3	chr3:163388063..163389955-chr3:163392155..163394079,2	K562	blood:
4	chr3:163369185..163370732-chr3:163383412..163385221,2	K562	blood:
5	chr3:163339598..163342556-chr3:163364653..163367485,2	K562	blood:

Variant related genes	Relation type
ENSG00000266757	TF binding region
ENSG00000266757	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs189801325	chr3:163366956-163366957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6764526	chr3:163367084-163367085	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17478859	chr3:163367109-163367110	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566908171	chr3:163367130-163367131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568783819	chr3:163367169-163367170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537212550	chr3:163367190-163367191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531287737	chr3:163367229-163367230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182835566	chr3:163367269-163367270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555956370	chr3:163367272-163367273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537251492	chr3:163367286-163367287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187078033	chr3:163367302-163367303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574020290	chr3:163367361-163367362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74887721	chr3:163367392-163367393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539181363	chr3:163367399-163367400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200065887	chr3:163367456-163367457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552628353	chr3:163367471-163367472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572550012	chr3:163367491-163367492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376357282	chr3:163367495-163367496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541414868	chr3:163367546-163367547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562415606	chr3:163367569-163367570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575801873	chr3:163367611-163367612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544813364	chr3:163367631-163367632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73876465	chr3:163367645-163367646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533552534	chr3:163367664-163367665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192970585	chr3:163367681-163367682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185142493	chr3:163367745-163367746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370680855	chr3:163367757-163367758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568407424	chr3:163367812-163367813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143999008	chr3:163367841-163367842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572576807	chr3:163367872-163367873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541200228	chr3:163367875-163367876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561412014	chr3:163367900-163367901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116181865	chr3:163367960-163367961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374956894	chr3:163368008-163368009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535292078	chr3:163368025-163368026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188865740	chr3:163368060-163368061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553372056	chr3:163368077-163368078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570581090	chr3:163368105-163368106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539245069	chr3:163368281-163368282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552690125	chr3:163368307-163368308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369109723	chr3:163368316-163368317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372817999	chr3:163368328-163368329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193207284	chr3:163368339-163368340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146439326	chr3:163368377-163368378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9826321	chr3:163368399-163368400	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546528636	chr3:163368425-163368426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563598686	chr3:163368426-163368427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530748953	chr3:163368438-163368439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544615012	chr3:163368440-163368441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558409759	chr3:163368459-163368460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163388600-163389600	Enhancers	K562	blood
2	chr3:163389200-163389600	Active TSS	A549	lung

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