Variant report

Variant	esv1805592
Chromosome Location	chr3:82853590-82913445
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	chr3:82857063-82857122	MCF-7	breast:	n/a	n/a
2	CTCF	chr3:82898356-82898457	GM12878	blood:	n/a	n/a
3	CTCF	chr3:82911866-82911902	GM20000	blood:	n/a	n/a
4	CTCF	chr3:82898386-82898457	MCF-7	breast:	n/a	n/a
5	CTCF	chr3:82871648-82871679	Lung_OC	lung:	n/a	n/a
6	CTCF	chr3:82898280-82898430	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:82855726-82855808	GM20000	blood:	n/a	n/a
8	E2F4	chr3:82857870-82858070	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr3:82900265-82900588	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr3:82884033-82884473	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr3:82861355-82861443	MCF10A-Er-Src	breast:	n/a	n/a
12	FAM48A	chr3:82874966-82875028	GM12878	blood:	n/a	n/a
13	FAM48A	chr3:82868459-82868505	GM12878	blood:	n/a	n/a
14	FOXA1	chr3:82872077-82872391	T-47D	breast:	n/a	chr3:82872258-82872273
15	FOXA1	chr3:82872089-82872355	HepG2	liver:	n/a	chr3:82872258-82872273
16	FOXA1	chr3:82872016-82872406	HepG2	liver:	n/a	chr3:82872258-82872273
17	FOXA1	chr3:82872126-82872372	T-47D	breast:	n/a	chr3:82872258-82872273
18	FOXA1	chr3:82872071-82872483	HepG2	liver:	n/a	chr3:82872258-82872273
19	FOXA2	chr3:82871924-82872522	HepG2	liver:	n/a	n/a
20	FOXA2	chr3:82872150-82872341	HepG2	liver:	n/a	n/a
21	JUN	chr3:82883776-82883800	HepG2	liver:	n/a	chr3:82883786-82883795 chr3:82883782-82883795
22	JUND	chr3:82883677-82883950	HepG2	liver:	n/a	chr3:82883786-82883795
23	MAFF	chr3:82896188-82896492	HepG2	liver:	n/a	chr3:82896331-82896349
24	MAFK	chr3:82896178-82896378	K562	blood:	n/a	chr3:82896336-82896347 chr3:82896335-82896349 chr3:82896337-82896348 chr3:82896332-82896348 chr3:82896283-82896298 chr3:82896328-82896345 chr3:82896332-82896347 chr3:82896336-82896347 chr3:82896337-82896348
25	MAFK	chr3:82882175-82882479	HepG2	liver:	n/a	chr3:82882384-82882398
26	MAFK	chr3:82883789-82883930	HepG2	liver:	n/a	n/a
27	MAFK	chr3:82858196-82858252	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr3:82883294-82883344	HepG2	liver:	n/a	n/a
29	MAFK	chr3:82883219-82883392	HepG2	liver:	n/a	n/a
30	MAFK	chr3:82896230-82896417	HepG2	liver:	n/a	chr3:82896336-82896347 chr3:82896335-82896349 chr3:82896337-82896348 chr3:82896332-82896348 chr3:82896283-82896298 chr3:82896328-82896345 chr3:82896332-82896347 chr3:82896336-82896347 chr3:82896337-82896348
31	MAFK	chr3:82896167-82896498	HepG2	liver:	n/a	chr3:82896336-82896347 chr3:82896335-82896349 chr3:82896337-82896348 chr3:82896332-82896348 chr3:82896283-82896298 chr3:82896328-82896345 chr3:82896332-82896347 chr3:82896336-82896347 chr3:82896337-82896348
32	MXI1	chr3:82882649-82882671	GM12878	blood:	n/a	n/a
33	MYC	chr3:82857211-82857212	MCF-7	breast:	n/a	n/a
34	MYC	chr3:82857046-82857180	MCF-7	breast:	n/a	n/a
35	MYC	chr3:82857213-82857224	MCF-7	breast:	n/a	n/a
36	MYC	chr3:82884396-82884596	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr3:82864023-82864126	MCF-7	breast:	n/a	n/a
38	MYC	chr3:82856974-82857207	MCF-7	breast:	n/a	n/a
39	POLR2A	chr3:82864998-82865136	MCF-7	breast:	n/a	n/a
40	POLR2A	chr3:82902797-82902802	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr3:82877181-82877299	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr3:82906473-82906657	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr3:82864002-82864162	A549	lung:	n/a	n/a
44	POLR2A	chr3:82858422-82858581	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:82864989-82864992	MCF-7	breast:	n/a	n/a
46	POLR2A	chr3:82887256-82887367	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:82858635-82858835	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:82888984-82889351	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr3:82903242-82903388	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:82864960-82864964	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:82854345-82854395	A549	lung:	n/a
2	chr3:82854345-82854395	A549	lung:	n/a
3	chr3:82854345-82854395	HepG2	liver:	n/a
4	chr3:82855983-82856033	U87	brain:	n/a
5	chr3:82855983-82856033	Caco-2	colon:	n/a
6	chr3:82857285-82857335	Caco-2	colon:	n/a
7	chr3:82854345-82854395	HUVEC	blood vessel:	n/a
8	chr3:82857026-82857076	HCF	heart:	n/a
9	chr3:82860625-82860675	HL-60	blood:	n/a
10	chr3:82854345-82854395	GM06990	blood:	n/a
11	chr3:82854345-82854395	Hepatocyte	liver:	n/a
12	chr3:82857026-82857076	AoSMC	blood vessel:	n/a
13	chr3:82857215-82857265	RPTEC	kidney:	n/a
14	chr3:82857144-82857194	HAEpiC	amniotic membrane:	n/a
15	chr3:82857285-82857335	IMR90	lung:	fetal
16	chr3:82860625-82860675	HIPEpiC	eye:	n/a
17	chr3:82857144-82857194	ECC-1	luminal epithelium:	n/a
18	chr3:82855983-82856033	A549	lung:	n/a
19	chr3:82860625-82860675	GM06990	blood:	n/a
20	chr3:82857144-82857194	SKMC	muscle:	n/a
21	chr3:82857144-82857194	AoSMC	blood vessel:	n/a
22	chr3:82857285-82857335	ovcar-3	ovarian:	n/a
23	chr3:82857144-82857194	NH-A	brain:	n/a
24	chr3:82857285-82857335	Hela-S3	cervix:	n/a
25	chr3:82854345-82854395	PrEC	prostate:	n/a
26	chr3:82860625-82860675	NB4	blood:	n/a
27	chr3:82857026-82857076	NHBE	bronchial:	n/a
28	chr3:82857285-82857335	HCM	heart:	n/a
29	chr3:82857144-82857194	MCF-7	breast:	n/a
30	chr3:82857285-82857335	PANC-1	pancreas:	n/a
31	chr3:82857026-82857076	NH-A	brain:	n/a
32	chr3:82857144-82857194	PFSK-1	brain:	n/a
33	chr3:82857026-82857076	MCF10A-Er-Src	breast:	n/a
34	chr3:82855983-82856033	ECC-1	luminal epithelium:	n/a
35	chr3:82857144-82857194	HCM	heart:	n/a
36	chr3:82855983-82856033	T-47D	breast:	n/a
37	chr3:82857144-82857194	SAEC	small airway:	n/a
38	chr3:82857285-82857335	PFSK-1	brain:	n/a
39	chr3:82854345-82854395	NHDF-neo	bronchial:	n/a
40	chr3:82857026-82857076	BJ	skin:	n/a
41	chr3:82857285-82857335	AG04450	lung:	fetal
42	chr3:82854345-82854395	SK-N-MC	brain:	n/a
43	chr3:82857285-82857335	LNCaP	prostate:	n/a
44	chr3:82857285-82857335	MCF-7	breast:	n/a
45	chr3:82857144-82857194	U87	brain:	n/a
46	chr3:82860625-82860675	AG04450	lung:	fetal
47	chr3:82857215-82857265	PrEC	prostate:	n/a
48	chr3:82855983-82856033	BE2_C	brain:	n/a
49	chr3:82857285-82857335	GM12891	blood:	n/a
50	chr3:82854345-82854395	SAEC	small airway:	n/a

Variant related genes	Relation type
CYP51A1P1	TF binding region
CYP51A1P1	CpG island

Extended variants
information (count: 145 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1032554	chr3:82853590-82853591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150181094	chr3:82853621-82853622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190817422	chr3:82853622-82853623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572523309	chr3:82853645-82853646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3925550	chr3:82853706-82853707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538320545	chr3:82853729-82853730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561232463	chr3:82853737-82853738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572858073	chr3:82853777-82853778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544944182	chr3:82857173-82857174	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs564909668	chr3:82857199-82857200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs376809926	chr3:82857211-82857212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs9831888	chr3:82857229-82857230	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567014369	chr3:82857239-82857240	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs529703963	chr3:82857328-82857329	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs190702421	chr3:82857870-82857871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182255149	chr3:82857886-82857887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111451743	chr3:82857932-82857933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554727039	chr3:82857979-82857980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373540581	chr3:82857986-82857987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552098889	chr3:82857996-82857997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs141349574	chr3:82858030-82858031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183560498	chr3:82858069-82858070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547815849	chr3:82858235-82858236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567635264	chr3:82858242-82858243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181176000	chr3:82858433-82858434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559418812	chr3:82858440-82858441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34441570	chr3:82858452-82858453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs576212503	chr3:82858467-82858468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538448324	chr3:82858477-82858478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558680183	chr3:82858539-82858540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572014922	chr3:82858561-82858562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111465529	chr3:82858577-82858578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs185517420	chr3:82858675-82858676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553650139	chr3:82858707-82858708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573412343	chr3:82858737-82858738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139022826	chr3:82858763-82858764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563234978	chr3:82858766-82858767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191401219	chr3:82858774-82858775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545693977	chr3:82858797-82858798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531972313	chr3:82858825-82858826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549853277	chr3:82858827-82858828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552300446	chr3:82860626-82860627	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs369014526	chr3:82860636-82860637	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs140351003	chr3:82860637-82860638	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs528526237	chr3:82860672-82860673	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs559184463	chr3:82861362-82861363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572373968	chr3:82861382-82861383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184855170	chr3:82861418-82861419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149952043	chr3:82861419-82861420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs116398044	chr3:82863819-82863820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82853400-82853600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:82853400-82853600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:82853400-82853800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:82863800-82864800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:82864000-82864200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:82864000-82864400	ZNF genes & repeats	Dnd41	blood
7	chr3:82864000-82865000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:82864000-82865200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:82864200-82865000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:82876000-82876200	Enhancers	Aorta	Aorta
11	chr3:82885400-82885800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:82885400-82886000	Enhancers	HUES48 Cell Line	embryonic stem cell

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