Variant report

Variant	nsv603768
Chromosome Location	chr6:76156587-76160830
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	BRCA1	chr6:76159390-76159717	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:76159377-76159892	IMR90	lung:	n/a	n/a
3	CEBPB	chr6:76159354-76159917	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:76159402-76159950	A549	lung:	n/a	n/a
5	CEBPB	chr6:76159461-76159747	A549	lung:	n/a	n/a
6	CEBPB	chr6:76159347-76159947	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:76159486-76159979	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:76158676-76158684	GM13976	blood:	n/a	n/a
9	EP300	chr6:76159177-76159916	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
10	EP300	chr6:76159323-76159644	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
11	EP300	chr6:76159403-76159688	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
12	EP300	chr6:76159351-76159759	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
13	FOS	chr6:76159359-76159700	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
14	FOS	chr6:76159388-76159686	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
15	FOS	chr6:76159375-76159689	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
16	FOS	chr6:76159362-76159685	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
17	FOSL2	chr6:76159292-76159857	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
18	FOSL2	chr6:76159292-76159791	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
19	FOSL2	chr6:76159202-76159887	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
20	FOSL2	chr6:76159348-76159651	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
21	FOSL2	chr6:76159313-76159730	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
22	FOSL2	chr6:76159206-76159818	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
23	FOXA2	chr6:76159356-76159762	A549	lung:	n/a	n/a
24	GATA2	chr6:76159352-76159752	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr6:76159115-76160165	MCF-7	breast:	n/a	n/a
26	GATA3	chr6:76159115-76159935	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr6:76159168-76159919	A549	lung:	n/a	n/a
28	GATA3	chr6:76159148-76160099	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr6:76159260-76159930	MCF-7	breast:	n/a	n/a
30	GATA3	chr6:76159409-76159658	MCF-7	breast:	n/a	n/a
31	JUN	chr6:76159350-76159722	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
32	JUND	chr6:76159134-76159894	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
33	JUND	chr6:76159225-76159805	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
34	JUND	chr6:76159338-76159908	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
35	JUND	chr6:76159213-76159879	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
36	JUND	chr6:76159248-76159841	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
37	MAX	chr6:76160647-76160955	NB4	blood:	n/a	chr6:76160799-76160809
38	MYC	chr6:76159504-76159621	MCF10A-Er-Src	breast:	n/a	chr6:76159515-76159524
39	MYC	chr6:76160655-76160955	NB4	blood:	n/a	chr6:76160799-76160809
40	NFIC	chr6:76159215-76159837	SK-N-SH	brain:	n/a	n/a
41	NR2F2	chr6:76159283-76159919	MCF-7	breast:	n/a	n/a
42	NR2F2	chr6:76159344-76159861	MCF-7	breast:	n/a	n/a
43	PBX3	chr6:76159294-76159750	SK-N-SH	brain:	n/a	n/a
44	PBX3	chr6:76159247-76159808	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:76159315-76159703	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr6:76158342-76158441	ProgFib	skin:	n/a	n/a
47	RFX5	chr6:76159389-76159715	Hela-S3	cervix:	n/a	chr6:76159417-76159425
48	SETDB1	chr6:76159201-76159579	U2OS	brain:	n/a	n/a
49	SIN3AK20	chr6:76159237-76159845	MCF-7	breast:	n/a	n/a
50	SPI1	chr6:76160659-76160948	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76160176..76162378-chr6:76232969..76235854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238156	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149501850	chr6:76156587-76156588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144063022	chr6:76156633-76156634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370351336	chr6:76156728-76156729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529409198	chr6:76156805-76156806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547610734	chr6:76156831-76156832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6930208	chr6:76156851-76156852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140066170	chr6:76156874-76156875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375611046	chr6:76156892-76156893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551237889	chr6:76156902-76156903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77022014	chr6:76156907-76156908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563951384	chr6:76156928-76156929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552791490	chr6:76156976-76156977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6908400	chr6:76157145-76157146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556020602	chr6:76157146-76157147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79830845	chr6:76157150-76157151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143738577	chr6:76157189-76157190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552818966	chr6:76157207-76157208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183330705	chr6:76157280-76157281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544645146	chr6:76157295-76157296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188835664	chr6:76157321-76157322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575181455	chr6:76157330-76157331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2998394	chr6:76157366-76157367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561221194	chr6:76157367-76157368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528305319	chr6:76157380-76157381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528569955	chr6:76157393-76157394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545445995	chr6:76157394-76157395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533427644	chr6:76157458-76157459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146785458	chr6:76157516-76157517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73461761	chr6:76157575-76157576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537758607	chr6:76157598-76157599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549443168	chr6:76157635-76157636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139462316	chr6:76157637-76157638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565276651	chr6:76157667-76157668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553519449	chr6:76157694-76157695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571018803	chr6:76157743-76157744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538300141	chr6:76157762-76157763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193081090	chr6:76157823-76157824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142803158	chr6:76157830-76157831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184945316	chr6:76157912-76157913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546836238	chr6:76157913-76157914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186609940	chr6:76158035-76158036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369810230	chr6:76158089-76158090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567223630	chr6:76158113-76158114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112537053	chr6:76158164-76158165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532485292	chr6:76158174-76158175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540064397	chr6:76158220-76158221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565046488	chr6:76158230-76158231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533489281	chr6:76158237-76158238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199681078	chr6:76158268-76158269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376876252	chr6:76158269-76158270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76146400-76171600	Weak transcription	Right Ventricle	heart
2	chr6:76148400-76173600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:76148800-76177000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:76150400-76168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:76154800-76158000	Enhancers	A549	lung
6	chr6:76154800-76159200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:76155200-76159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:76155400-76159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:76155600-76168000	Weak transcription	Fetal Lung	lung
10	chr6:76155800-76157200	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:76156000-76157400	Enhancers	Fetal Heart	heart
12	chr6:76156200-76156600	Enhancers	Aorta	Aorta
13	chr6:76156200-76156600	Enhancers	Psoas Muscle	Psoas
14	chr6:76156200-76156600	Enhancers	Right Atrium	heart
15	chr6:76156200-76156800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:76156200-76156800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:76156400-76156600	Genic enhancers	Left Ventricle	heart
18	chr6:76156400-76156800	Enhancers	Colon Smooth Muscle	Colon
19	chr6:76156400-76159200	Weak transcription	NHDF-Ad	bronchial
20	chr6:76156600-76159600	Weak transcription	Aorta	Aorta
21	chr6:76156600-76167600	Weak transcription	Psoas Muscle	Psoas
22	chr6:76156600-76171400	Weak transcription	Left Ventricle	heart
23	chr6:76156800-76159200	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:76156800-76169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:76156800-76170800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:76157400-76164800	Weak transcription	Fetal Heart	heart
27	chr6:76158000-76159200	Weak transcription	A549	lung
28	chr6:76159000-76160000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:76159000-76160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:76159200-76159400	Enhancers	Colon Smooth Muscle	Colon
31	chr6:76159200-76159600	Enhancers	Hela-S3	cervix
32	chr6:76159200-76159800	Enhancers	HSMMtube	muscle
33	chr6:76159200-76159800	Enhancers	Osteobl	bone
34	chr6:76159200-76160000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:76159200-76160000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:76159200-76160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:76159200-76160000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:76159200-76160000	Enhancers	Placenta	Placenta
39	chr6:76159200-76160000	Enhancers	A549	lung
40	chr6:76159200-76160000	Enhancers	NHLF	lung
41	chr6:76159200-76160200	Enhancers	NHDF-Ad	bronchial
42	chr6:76159600-76160000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:76159600-76160000	Enhancers	Aorta	Aorta
44	chr6:76159600-76160000	Flanking Active TSS	Hela-S3	cervix
45	chr6:76160000-76160200	Enhancers	Hela-S3	cervix
46	chr6:76160000-76163600	Weak transcription	A549	lung
47	chr6:76160000-76171400	Weak transcription	Aorta	Aorta
48	chr6:76160200-76164000	Weak transcription	NHDF-Ad	bronchial

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