Variant report

Variant	nsv528731
Chromosome Location	chr6:121857609-121875648
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	chr6:121874686-121874860	A549	lung:	n/a	n/a
3	CEBPB	chr6:121860537-121861020	Hela-S3	cervix:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
4	CEBPB	chr6:121865969-121866190	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:121860642-121860953	MCF-7	breast:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
6	CEBPB	chr6:121860677-121860978	A549	lung:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
7	CEBPB	chr6:121870952-121871290	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:121860726-121860937	HepG2	liver:	n/a	chr6:121860821-121860832 chr6:121860819-121860836
9	CTCF	chr6:121857780-121857930	GM12866	blood:	n/a	n/a
10	CTCF	chr6:121870960-121871110	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr6:121866581-121866626	GM10266	blood:	n/a	n/a
12	CTCF	chr6:121870640-121870790	HCFaa	heart:	n/a	n/a
13	CTCF	chr6:121870940-121871090	HPAF	blood vessel:	n/a	n/a
14	E2F4	chr6:121870893-121871318	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr6:121864818-121865132	Hela-S3	cervix:	n/a	n/a
16	EP300	chr6:121860648-121861140	MCF-7	breast:	n/a	chr6:121860818-121860832 chr6:121860823-121860831
17	EP300	chr6:121860730-121861048	Hela-S3	cervix:	n/a	chr6:121860818-121860832 chr6:121860823-121860831
18	FOS	chr6:121864621-121865203	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
19	FOS	chr6:121870857-121871286	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
20	FOS	chr6:121870893-121871259	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
21	FOS	chr6:121864640-121865206	HUVEC	blood vessel:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
22	FOS	chr6:121870961-121871234	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
23	FOS	chr6:121864637-121865197	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
24	FOS	chr6:121864652-121865203	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
25	FOS	chr6:121870885-121871275	MCF10A-Er-Src	breast:	n/a	chr6:121871127-121871137
26	FOS	chr6:121864648-121865178	MCF10A-Er-Src	breast:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
27	FOSL2	chr6:121864682-121865011	A549	lung:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
28	FOSL2	chr6:121870910-121871303	A549	lung:	n/a	chr6:121871127-121871137
29	FOSL2	chr6:121870839-121871325	MCF-7	breast:	n/a	chr6:121871127-121871137
30	FOSL2	chr6:121864722-121865038	SK-N-SH	brain:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
31	FOSL2	chr6:121864530-121865199	SK-N-SH	brain:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
32	GATA3	chr6:121860607-121861137	MCF-7	breast:	n/a	chr6:121860921-121860930 chr6:121860887-121860895
33	GATA3	chr6:121864722-121865249	SK-N-SH	brain:	n/a	chr6:121864965-121864975 chr6:121864804-121864813 chr6:121864888-121864898 chr6:121865046-121865055
34	GATA3	chr6:121859212-121859683	MCF-7	breast:	n/a	n/a
35	GATA3	chr6:121860501-121861163	MCF-7	breast:	n/a	chr6:121860921-121860930 chr6:121860887-121860895
36	GATA3	chr6:121870686-121871338	MCF-7	breast:	n/a	chr6:121871126-121871133
37	GATA3	chr6:121864635-121865252	SK-N-SH	brain:	n/a	chr6:121864965-121864975 chr6:121864804-121864813 chr6:121864888-121864898 chr6:121865046-121865055
38	HDAC2	chr6:121870747-121871256	MCF-7	breast:	n/a	chr6:121870912-121870931
39	JUN	chr6:121860743-121860895	HepG2	liver:	n/a	chr6:121860818-121860831
40	JUN	chr6:121864663-121865170	HUVEC	blood vessel:	n/a	chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
41	JUND	chr6:121861345-121861579	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr6:121860746-121860935	HepG2	liver:	n/a	n/a
43	JUND	chr6:121864618-121865259	SK-N-SH	brain:	n/a	chr6:121864801-121864812 chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
44	JUND	chr6:121864661-121864954	HepG2	liver:	n/a	chr6:121864801-121864812 chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
45	JUND	chr6:121864669-121865141	Hela-S3	cervix:	n/a	chr6:121864801-121864812 chr6:121864804-121864811 chr6:121864803-121864811 chr6:121864803-121864812
46	MAFF	chr6:121865851-121865972	HepG2	liver:	n/a	n/a
47	MAFK	chr6:121865849-121865987	HepG2	liver:	n/a	n/a
48	MAFK	chr6:121870794-121871330	IMR90	lung:	n/a	chr6:121871125-121871139
49	MAFK	chr6:121862189-121862231	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr6:121870852-121871296	MCF-7	breast:	n/a	n/a

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

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

Extended variants
information (count: 642 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1324093	chr6:121857609-121857610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370305574	chr6:121857647-121857648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542415590	chr6:121857654-121857655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562179182	chr6:121857668-121857669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530987051	chr6:121857676-121857677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568102287	chr6:121857711-121857712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1324094	chr6:121857737-121857738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78264783	chr6:121857744-121857745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113353678	chr6:121857812-121857813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532479365	chr6:121857856-121857857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139119399	chr6:121857863-121857864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149485037	chr6:121857871-121857872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528285303	chr6:121857963-121857964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9372658	chr6:121857968-121857969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200836248	chr6:121857987-121857988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72549882	chr6:121857988-121857989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201514545	chr6:121857989-121857990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577138368	chr6:121857990-121857991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369724958	chr6:121858025-121858026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369743542	chr6:121858033-121858034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556956914	chr6:121858034-121858035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192673147	chr6:121858095-121858096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61171862	chr6:121858134-121858135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540153071	chr6:121858147-121858148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553146534	chr6:121858155-121858156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184330982	chr6:121858217-121858218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541780110	chr6:121858231-121858232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146110211	chr6:121858253-121858254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557027251	chr6:121858257-121858258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188197228	chr6:121858258-121858259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536065949	chr6:121858267-121858268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140138554	chr6:121858277-121858278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575742349	chr6:121858314-121858315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17083751	chr6:121858326-121858327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564541788	chr6:121858364-121858365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577939710	chr6:121858421-121858422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557177680	chr6:121858440-121858441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143875478	chr6:121858441-121858442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191557081	chr6:121858544-121858545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115203313	chr6:121858615-121858616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548027930	chr6:121858627-121858628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575878213	chr6:121858672-121858673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561534888	chr6:121858679-121858680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565511681	chr6:121858807-121858808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536339649	chr6:121858831-121858832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9375038	chr6:121858893-121858894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184772635	chr6:121858983-121858984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573452269	chr6:121859015-121859016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573897122	chr6:121859094-121859095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570499506	chr6:121859116-121859117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121854800-121860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:121854800-121867000	Weak transcription	NHEK	skin
3	chr6:121855000-121870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:121855200-121866000	Weak transcription	HMEC	breast
5	chr6:121855800-121860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:121857000-121857800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:121857200-121857800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:121857400-121858000	Enhancers	Fetal Heart	heart
9	chr6:121859400-121859600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:121859600-121860600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:121859800-121867000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:121860400-121861000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:121860400-121861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:121860400-121861600	Enhancers	Hela-S3	cervix
15	chr6:121860600-121861400	Enhancers	A549	lung
16	chr6:121860600-121862000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:121860800-121861400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:121860800-121861400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:121861200-121864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:121861400-121870600	Weak transcription	A549	lung
21	chr6:121864200-121864800	Enhancers	HUVEC	blood vessel
22	chr6:121864600-121865000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:121864600-121865200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:121864600-121866600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:121864800-121865000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:121864800-121865200	Flanking Active TSS	HUVEC	blood vessel
27	chr6:121864800-121865600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:121864800-121866200	Enhancers	NH-A	brain
29	chr6:121864800-121866200	Enhancers	Osteobl	bone
30	chr6:121864800-121866400	Enhancers	NHDF-Ad	bronchial
31	chr6:121865000-121865200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:121865000-121870600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:121865200-121865600	Enhancers	HUVEC	blood vessel
34	chr6:121865200-121866200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:121865200-121869400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:121865600-121866200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:121866000-121866200	Enhancers	HMEC	breast
38	chr6:121866200-121866400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:121866200-121867000	Weak transcription	HMEC	breast
40	chr6:121866200-121869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:121866200-121869200	Weak transcription	Osteobl	bone
42	chr6:121866400-121869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:121866400-121869800	Weak transcription	NHDF-Ad	bronchial
44	chr6:121866600-121869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:121867000-121867400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:121867000-121867400	Enhancers	NHEK	skin
47	chr6:121867000-121867600	Enhancers	HMEC	breast
48	chr6:121867200-121867800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:121867200-121868000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:121867400-121870400	Weak transcription	NHEK	skin

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