Variant report

Variant	esv1839532
Chromosome Location	chr3:191065921-191074873
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	ARID3A	chr3:191070672-191071676	HepG2	liver:	n/a	n/a
2	ATF2	chr3:191073184-191073591	GM12878	blood:	n/a	n/a
3	ATF2	chr3:191073077-191073657	GM12878	blood:	n/a	n/a
4	BATF	chr3:191073229-191073582	GM12878	blood:	n/a	n/a
5	BATF	chr3:191073214-191073692	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:191073268-191073474	GM12878	blood:	n/a	n/a
7	BRCA1	chr3:191069917-191070191	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr3:191074379-191075227	HCT-116	colon:	n/a	n/a
9	CEBPB	chr3:191069866-191070163	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr3:191074423-191075056	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr3:191074858-191075140	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr3:191071160-191071310	MCF-7	breast:	n/a	n/a
13	E2F4	chr3:191074719-191075036	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr3:191073206-191074715	GM12878	blood:	n/a	chr3:191074290-191074299 chr3:191074290-191074299 chr3:191074288-191074301
15	EBF1	chr3:191066028-191066101	GM12878	blood:	n/a	n/a
16	EBF1	chr3:191072774-191072875	GM12878	blood:	n/a	n/a
17	EBF1	chr3:191071142-191071733	GM12878	blood:	n/a	n/a
18	ELK4	chr3:191074340-191074578	Hela-S3	cervix:	n/a	n/a
19	EP300	chr3:191073204-191073728	GM12878	blood:	n/a	n/a
20	EP300	chr3:191070814-191071430	HepG2	liver:	n/a	n/a
21	EP300	chr3:191071200-191071536	GM12878	blood:	n/a	n/a
22	EP300	chr3:191074122-191074965	ECC-1	luminal epithelium:	n/a	chr3:191074757-191074764
23	EP300	chr3:191073219-191073768	GM12878	blood:	n/a	n/a
24	ESR1	chr3:191074391-191074665	ECC-1	luminal epithelium:	n/a	n/a
25	FOS	chr3:191069777-191070249	MCF10A-Er-Src	breast:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
26	FOS	chr3:191069818-191070273	MCF10A-Er-Src	breast:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
27	FOS	chr3:191069836-191070198	MCF10A-Er-Src	breast:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
28	FOS	chr3:191074363-191075181	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr3:191068106-191068447	MCF10A-Er-Src	breast:	n/a	chr3:191068292-191068303 chr3:191068371-191068380
30	FOS	chr3:191074494-191075078	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:191068122-191068812	HUVEC	blood vessel:	n/a	chr3:191068292-191068303 chr3:191068371-191068380
32	FOS	chr3:191068128-191068472	MCF10A-Er-Src	breast:	n/a	chr3:191068292-191068303 chr3:191068371-191068380
33	FOS	chr3:191074461-191075193	HUVEC	blood vessel:	n/a	n/a
34	FOS	chr3:191073764-191073964	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr3:191068255-191068488	MCF10A-Er-Src	breast:	n/a	chr3:191068292-191068303 chr3:191068371-191068380
36	FOS	chr3:191074387-191075088	Hela-S3	cervix:	n/a	n/a
37	FOS	chr3:191073694-191073996	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:191074553-191075107	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:191069820-191070197	MCF10A-Er-Src	breast:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
40	FOS	chr3:191074353-191075159	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:191069883-191070200	HUVEC	blood vessel:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
42	FOSL1	chr3:191069768-191070260	HCT-116	colon:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
43	FOSL1	chr3:191074294-191075265	HCT-116	colon:	n/a	n/a
44	FOSL2	chr3:191069888-191070161	HepG2	liver:	n/a	chr3:191070002-191070011 chr3:191070002-191070012 chr3:191070001-191070013 chr3:191070003-191070010 chr3:191070010-191070022 chr3:191070003-191070011
45	FOXA1	chr3:191070969-191071532	HepG2	liver:	n/a	n/a
46	FOXA2	chr3:191068646-191068874	HepG2	liver:	n/a	n/a
47	FOXM1	chr3:191073146-191073787	GM12878	blood:	n/a	n/a
48	GATA2	chr3:191068658-191069100	HUVEC	blood vessel:	n/a	chr3:191068837-191068846 chr3:191068836-191068848 chr3:191068837-191068847 chr3:191068839-191068846
49	GTF2F1	chr3:191074455-191075207	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr3:191071162-191071412	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
2	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
3	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
4	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
5	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:
6	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
7	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:
8	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
9	chr3:191049298..191052407-chr3:191074621..191077632,4	K562	blood:
10	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
11	chr3:191049478..191053328-chr3:191074760..191077632,3	K562	blood:

Variant related genes	Relation type
CCDC50	TF binding region
ENSG00000152492	chromatin interactions
ENSG00000188958	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4247190	chr3:191065921-191065922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185770027	chr3:191065939-191065940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4247189	chr3:191065949-191065950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs36007879	chr3:191065962-191065963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191314193	chr3:191065988-191065989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527971890	chr3:191065989-191065990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17838893	chr3:191066094-191066095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138980872	chr3:191066120-191066121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368577820	chr3:191066182-191066183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536360018	chr3:191066222-191066223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549875810	chr3:191066236-191066237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182590270	chr3:191066282-191066283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538799898	chr3:191066288-191066289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142119889	chr3:191066303-191066304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372410289	chr3:191066363-191066364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187715505	chr3:191066369-191066370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375835951	chr3:191066383-191066384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193141780	chr3:191066528-191066529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183161375	chr3:191066529-191066530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370160667	chr3:191066545-191066546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187487879	chr3:191066566-191066567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192152218	chr3:191066722-191066723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562601426	chr3:191066746-191066747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367895343	chr3:191066749-191066750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116414316	chr3:191066753-191066754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76036629	chr3:191066767-191066768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74425156	chr3:191066800-191066801	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12636138	chr3:191066878-191066879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs537226500	chr3:191066885-191066886	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146354705	chr3:191066909-191066910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560963315	chr3:191066916-191066917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529614118	chr3:191066919-191066920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34773750	chr3:191066954-191066955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549914556	chr3:191067015-191067016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373102319	chr3:191067075-191067076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139872684	chr3:191067113-191067114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114905287	chr3:191067142-191067143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374209249	chr3:191067160-191067161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552430267	chr3:191067176-191067177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565722847	chr3:191067190-191067191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9821594	chr3:191067244-191067245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570801452	chr3:191067259-191067260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554518948	chr3:191067288-191067289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76487729	chr3:191067356-191067357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375944073	chr3:191067439-191067440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149260116	chr3:191067475-191067476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56376956	chr3:191067522-191067523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373543812	chr3:191067656-191067657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184232451	chr3:191067659-191067660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545080650	chr3:191067680-191067681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
5	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
6	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
7	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
9	chr3:191061000-191070800	Weak transcription	Lung	lung
10	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:191061600-191068000	Weak transcription	Hela-S3	cervix
14	chr3:191061800-191067800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:191062000-191066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:191062000-191067800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:191062000-191067800	Weak transcription	NH-A	brain
18	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:191062000-191075600	Weak transcription	K562	blood
20	chr3:191062200-191068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:191062200-191068000	Weak transcription	Fetal Brain Male	brain
22	chr3:191062200-191068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
24	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
25	chr3:191062800-191066600	Weak transcription	Left Ventricle	heart
26	chr3:191062800-191068200	Weak transcription	Aorta	Aorta
27	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:191063200-191066400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:191063400-191066000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:191063400-191066800	Weak transcription	Psoas Muscle	Psoas
31	chr3:191063400-191067200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:191063400-191067800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:191063400-191068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:191063400-191068400	Weak transcription	Small Intestine	intestine
35	chr3:191063600-191068000	Weak transcription	Osteobl	bone
36	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:191063800-191067800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:191064200-191067800	Enhancers	HUVEC	blood vessel
39	chr3:191064200-191069800	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:191064600-191067000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:191065000-191066000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:191065200-191067400	Enhancers	Ovary	ovary
44	chr3:191065200-191067800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:191065400-191066600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:191065400-191067400	Weak transcription	Liver	Liver
47	chr3:191065400-191068000	Weak transcription	NHLF	lung
48	chr3:191065400-191068200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:191065400-191068400	Weak transcription	Right Ventricle	heart
50	chr3:191065400-191071400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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