Variant report

Variant	esv3446075
Chromosome Location	chr3:158214299-158241785
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	chr3:158227717-158228086	MCF-7	breast:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
2	CEBPB	chr3:158227660-158228031	IMR90	lung:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
3	CEBPB	chr3:158227604-158228070	MCF-7	breast:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
4	CEBPB	chr3:158240596-158240940	IMR90	lung:	n/a	n/a
5	CEBPB	chr3:158227678-158228029	A549	lung:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
6	CEBPB	chr3:158227634-158228074	Hela-S3	cervix:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
7	CEBPB	chr3:158227598-158228134	A549	lung:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
8	CEBPB	chr3:158226278-158226812	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:158227666-158228021	HepG2	liver:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
10	CEBPB	chr3:158227665-158228020	K562	blood:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
11	CEBPB	chr3:158227748-158227948	H1-hESC	embryonic stem cell:	n/a	chr3:158227855-158227866 chr3:158227838-158227849
12	CTCF	chr3:158224440-158224590	AG10803	skin:	n/a	n/a
13	CTCF	chr3:158217783-158217822	GM10248	blood:	n/a	n/a
14	CTCF	chr3:158220936-158221006	GM10248	blood:	n/a	n/a
15	E2F4	chr3:158238048-158238248	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr3:158240632-158240940	MCF10A-Er-Src	breast:	n/a	chr3:158240805-158240822
17	EP300	chr3:158227719-158228066	Hela-S3	cervix:	n/a	n/a
18	EP300	chr3:158240481-158240874	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr3:158240434-158240901	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr3:158240409-158240974	SK-N-SH	brain:	n/a	n/a
21	EP300	chr3:158238246-158238509	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr3:158240426-158241056	SK-N-SH	brain:	n/a	n/a
23	EP300	chr3:158238149-158238550	SK-N-SH_RA	brain:	n/a	n/a
24	FOS	chr3:158240042-158241129	MCF10A-Er-Src	breast:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
25	FOS	chr3:158240025-158241081	MCF10A-Er-Src	breast:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
26	FOS	chr3:158227812-158228034	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr3:158226377-158226554	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr3:158240479-158240987	MCF10A-Er-Src	breast:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
29	FOS	chr3:158227744-158228060	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr3:158240124-158241006	MCF10A-Er-Src	breast:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
31	FOSL2	chr3:158240354-158240980	SK-N-SH	brain:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
32	FOXA1	chr3:158234210-158234549	HepG2	liver:	n/a	n/a
33	FOXA2	chr3:158234084-158234732	A549	lung:	n/a	n/a
34	GABPA	chr3:158232286-158232398	Hela-S3	cervix:	n/a	n/a
35	GATA3	chr3:158226252-158226908	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr3:158240327-158241083	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr3:158226238-158226885	MCF-7	breast:	n/a	n/a
38	GATA3	chr3:158226198-158226905	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr3:158238075-158238650	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr3:158240343-158240911	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr3:158238045-158238720	SK-N-SH	brain:	n/a	n/a
42	IRF3	chr3:158227932-158228006	GM12878	blood:	n/a	n/a
43	JUND	chr3:158240376-158240996	SK-N-SH	brain:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
44	JUND	chr3:158226479-158226616	K562	blood:	n/a	n/a
45	JUND	chr3:158240343-158240998	SK-N-SH	brain:	n/a	chr3:158240797-158240804 chr3:158240797-158240805
46	MAFK	chr3:158226286-158226639	IMR90	lung:	n/a	n/a
47	MAX	chr3:158227713-158227979	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr3:158234963-158234964	HepG2	liver:	n/a	n/a
49	MAZ	chr3:158240911-158240927	HepG2	liver:	n/a	n/a
50	MEF2A	chr3:158240492-158241011	SK-N-SH	brain:	n/a	chr3:158240899-158240910 chr3:158240900-158240909

No.	Distal block	Cell Line	Cell type
1	chr3:158207680..158210719-chr3:158221219..158222942,3	MCF-7	breast:
2	chr3:158235978..158238855-chr3:158239538..158241926,2	MCF-7	breast:
3	chr3:158235978..158238855-chr3:158239538..158241926,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLF1-4	chr3:158214350-158214723	NONHSAT092925

Variant related genes	Relation type
ENSG00000243314	TF binding region

Extended variants
information (count: 704 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6805361	chr3:158214327-158214328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558224815	chr3:158214373-158214374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374722827	chr3:158214443-158214444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs566537121	chr3:158214453-158214454	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs6795376	chr3:158214471-158214472	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs73020715	chr3:158214530-158214531	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573961196	chr3:158214580-158214581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs73154309	chr3:158214621-158214622	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs556506746	chr3:158214631-158214632	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs571412379	chr3:158214654-158214655	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544816191	chr3:158214677-158214678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560247952	chr3:158214708-158214709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527283081	chr3:158214755-158214756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542614314	chr3:158214756-158214757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560854723	chr3:158214761-158214762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538607965	chr3:158214788-158214789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191721817	chr3:158214870-158214871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550048177	chr3:158214934-158214935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370075536	chr3:158215009-158215010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6795933	chr3:158215042-158215043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111681607	chr3:158215071-158215072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551587845	chr3:158215117-158215118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11719037	chr3:158215141-158215142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs556952357	chr3:158215157-158215158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533947953	chr3:158215159-158215160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371614896	chr3:158215160-158215161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554977871	chr3:158215161-158215162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377691699	chr3:158215220-158215221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537452822	chr3:158215230-158215231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553281118	chr3:158215231-158215232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565542930	chr3:158215233-158215234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114988369	chr3:158215269-158215270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538201222	chr3:158215274-158215275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143343779	chr3:158215289-158215290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578115789	chr3:158215294-158215295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374587847	chr3:158215297-158215298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183575789	chr3:158215318-158215319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573444249	chr3:158215319-158215320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553923894	chr3:158215330-158215331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572208539	chr3:158215351-158215352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542724952	chr3:158215363-158215364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560914029	chr3:158215370-158215371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188166632	chr3:158215371-158215372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543362287	chr3:158215373-158215374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565141817	chr3:158215433-158215434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540830439	chr3:158215460-158215461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564931787	chr3:158215466-158215467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372742199	chr3:158215506-158215507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552893473	chr3:158215515-158215516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148322236	chr3:158215516-158215517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158207200-158221400	Weak transcription	Ovary	ovary
2	chr3:158211200-158215200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:158211600-158221400	Weak transcription	Gastric	stomach
4	chr3:158219200-158219800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr3:158219800-158227800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:158221000-158222200	Enhancers	Esophagus	oesophagus
7	chr3:158221400-158221600	Enhancers	Ovary	ovary
8	chr3:158221400-158222000	Enhancers	Gastric	stomach
9	chr3:158222000-158222400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:158222000-158223000	Enhancers	Hela-S3	cervix
11	chr3:158224000-158224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:158224000-158224800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:158225600-158226800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:158226400-158230200	Weak transcription	Left Ventricle	heart
15	chr3:158227800-158228000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr3:158237600-158239600	Enhancers	NHDF-Ad	bronchial
17	chr3:158237800-158241400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:158238000-158238200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:158238000-158239400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:158238000-158239400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:158238200-158238400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:158238200-158238600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:158238200-158238600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:158238200-158239200	Enhancers	Osteobl	bone
25	chr3:158238200-158240200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:158238600-158240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:158238600-158240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:158238600-158240200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:158239200-158239800	Weak transcription	Osteobl	bone
30	chr3:158239400-158239800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:158239400-158239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:158239600-158240000	Weak transcription	NHDF-Ad	bronchial
33	chr3:158239800-158241200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:158239800-158241200	Enhancers	Osteobl	bone
35	chr3:158239800-158241800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:158240000-158240400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:158240000-158241200	Enhancers	NHDF-Ad	bronchial
38	chr3:158240200-158240600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:158240200-158240800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:158240200-158240800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:158240200-158240800	Enhancers	NH-A	brain

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