Variant report

Variant	esv1847344
Chromosome Location	chr6:121845356-121875648
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	BACH1	chr6:121863976-121863999	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:121860642-121860953	MCF-7	breast:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
3	CEBPB	chr6:121860677-121860978	A549	lung:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
4	CEBPB	chr6:121860726-121860937	HepG2	liver:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
5	CEBPB	chr6:121865969-121866190	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:121860537-121861020	Hela-S3	cervix:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
7	CEBPB	chr6:121870952-121871290	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:121874686-121874860	A549	lung:	n/a	n/a
9	CTCF	chr6:121855540-121855690	HCT-116	colon:	n/a	n/a
10	CTCF	chr6:121855520-121855670	BE2_C	brain:	n/a	n/a
11	CTCF	chr6:121855560-121855710	HEK293	kidney:	n/a	n/a
12	CTCF	chr6:121852377-121852420	ProgFib	skin:	n/a	n/a
13	CTCF	chr6:121855360-121855510	HVMF	connective:	n/a	n/a
14	CTCF	chr6:121855420-121855570	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr6:121866581-121866626	GM10266	blood:	n/a	n/a
16	CTCF	chr6:121870940-121871090	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr6:121855557-121855569	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:121870640-121870790	HCFaa	heart:	n/a	n/a
19	CTCF	chr6:121852240-121852296	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr6:121855566-121855603	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:121855538-121855615	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:121855570-121855604	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:121855563-121855612	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:121857780-121857930	GM12866	blood:	n/a	n/a
25	CTCF	chr6:121855480-121855630	HMF	breast:	n/a	n/a
26	CTCF	chr6:121870960-121871110	NHDF-neo	bronchial:	n/a	n/a
27	E2F4	chr6:121870893-121871318	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr6:121854362-121854632	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr6:121864818-121865132	Hela-S3	cervix:	n/a	n/a
30	EP300	chr6:121860730-121861048	Hela-S3	cervix:	n/a	chr6:121860818-121860832 chr6:121860823-121860831
31	EP300	chr6:121860648-121861140	MCF-7	breast:	n/a	chr6:121860818-121860832 chr6:121860823-121860831
32	FOS	chr6:121864637-121865197	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
33	FOS	chr6:121870961-121871234	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
34	FOS	chr6:121864640-121865206	HUVEC	blood vessel:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
35	FOS	chr6:121870857-121871286	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
36	FOS	chr6:121870885-121871275	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
37	FOS	chr6:121864648-121865178	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
38	FOS	chr6:121864652-121865203	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
39	FOS	chr6:121864621-121865203	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
40	FOS	chr6:121870893-121871259	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
41	FOSL2	chr6:121870910-121871303	A549	lung:	n/a	chr6:121871127-121871137
42	FOSL2	chr6:121870839-121871325	MCF-7	breast:	n/a	chr6:121871127-121871137
43	FOSL2	chr6:121864722-121865038	SK-N-SH	brain:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
44	FOSL2	chr6:121864682-121865011	A549	lung:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
45	FOSL2	chr6:121864530-121865199	SK-N-SH	brain:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
46	GATA3	chr6:121864722-121865249	SK-N-SH	brain:	n/a	chr6:121864965-121864975 chr6:121864804-121864813 chr6:121864888-121864898 chr6:121865046-121865055
47	GATA3	chr6:121859212-121859683	MCF-7	breast:	n/a	n/a
48	GATA3	chr6:121860607-121861137	MCF-7	breast:	n/a	chr6:121860921-121860930 chr6:121860887-121860895
49	GATA3	chr6:121860501-121861163	MCF-7	breast:	n/a	chr6:121860921-121860930 chr6:121860887-121860895
50	GATA3	chr6:121864635-121865252	SK-N-SH	brain:	n/a	chr6:121864965-121864975 chr6:121864804-121864813 chr6:121864888-121864898 chr6:121865046-121865055

No.	Distal block	Cell Line	Cell type
1	chr6:121864729..121867208-chr6:121867323..121869414,2	MCF-7	breast:
2	chr6:121859860..121862588-chr6:121867784..121870327,2	MCF-7	breast:
3	chr6:121864729..121867208-chr6:121867323..121869414,2	MCF-7	breast:
4	chr6:121837230..121839698-chr6:121851080..121853527,2	MCF-7	breast:
5	chr6:121859860..121862588-chr6:121867784..121870327,2	MCF-7	breast:

Variant related genes	Relation type
RNU4-76P	TF binding region

Extended variants
information (count: 1040 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1359233	chr6:121845356-121845357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548787864	chr6:121845432-121845433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184480605	chr6:121845434-121845435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9385200	chr6:121845501-121845502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548774857	chr6:121845539-121845540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188606097	chr6:121845566-121845567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571977458	chr6:121845614-121845615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534177900	chr6:121845630-121845631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67083775	chr6:121845651-121845652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71018140	chr6:121845652-121845653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34995334	chr6:121845679-121845680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193243111	chr6:121845704-121845705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185740920	chr6:121845723-121845724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556220019	chr6:121845789-121845790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549473874	chr6:121845808-121845809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138905976	chr6:121845871-121845872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12200040	chr6:121845872-121845873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564894841	chr6:121846002-121846003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188850663	chr6:121846014-121846015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6915013	chr6:121846015-121846016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181592253	chr6:121846016-121846017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28455731	chr6:121846038-121846039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549170700	chr6:121846069-121846070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562585470	chr6:121846080-121846081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111585138	chr6:121846191-121846192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150550371	chr6:121846290-121846291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571258095	chr6:121846372-121846373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534547479	chr6:121846374-121846375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559706064	chr6:121846420-121846421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547759752	chr6:121846428-121846429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567879164	chr6:121846436-121846437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569940875	chr6:121846445-121846446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35687789	chr6:121846543-121846544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536804954	chr6:121846709-121846710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201748890	chr6:121846736-121846737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138596173	chr6:121846753-121846754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183880056	chr6:121846827-121846828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188563456	chr6:121846854-121846855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113254798	chr6:121846872-121846873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180722382	chr6:121846873-121846874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572341730	chr6:121846891-121846892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540548834	chr6:121846977-121846978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555206304	chr6:121847013-121847014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7757404	chr6:121847031-121847032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573846170	chr6:121847047-121847048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149315645	chr6:121847048-121847049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562624107	chr6:121847059-121847060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531477826	chr6:121847086-121847087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537567998	chr6:121847170-121847171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7757975	chr6:121847249-121847250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121841000-121845400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:121841200-121845400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:121842200-121847400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:121842800-121845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:121843400-121845400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:121843400-121845600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:121843400-121845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:121844000-121847400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:121844200-121845400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:121844400-121845400	Enhancers	Osteobl	bone
11	chr6:121844400-121845600	Enhancers	NH-A	brain
12	chr6:121844400-121847000	Weak transcription	Aorta	Aorta
13	chr6:121844600-121845800	Enhancers	HUVEC	blood vessel
14	chr6:121844800-121845400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:121844800-121845400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:121844800-121845400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:121844800-121845600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:121845000-121845400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:121845000-121847000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:121845000-121847400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:121845200-121845400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:121845200-121845600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:121845200-121847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:121845200-121847400	Weak transcription	Ovary	ovary
25	chr6:121845400-121847200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:121845400-121847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:121845400-121847200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:121845400-121847400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:121845400-121850800	Weak transcription	Osteobl	bone
30	chr6:121845400-121854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:121845600-121846600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:121846600-121847000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:121847000-121847200	Enhancers	Aorta	Aorta
34	chr6:121847000-121848000	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:121847000-121851000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:121847200-121847800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:121847200-121847800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:121847200-121847800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:121847200-121847800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:121847400-121847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:121847400-121847800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr6:121847400-121847800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:121847400-121847800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:121847400-121847800	Enhancers	Ovary	ovary
45	chr6:121847400-121848200	Enhancers	Colon Smooth Muscle	Colon
46	chr6:121847600-121847800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:121848200-121853000	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:121850800-121851200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:121850800-121851200	Enhancers	Osteobl	bone
50	chr6:121850800-121854000	Enhancers	Brain Germinal Matrix	brain

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