Variant report

Variant	esv2763979
Chromosome Location	chr6:81271296-81295103
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	chr6:81283814-81284092	HepG2	liver:	n/a	n/a
2	CTCF	chr6:81272958-81273253	GM12878	blood:	n/a	n/a
3	CTCF	chr6:81290440-81290590	HPF	lung:	n/a	n/a
4	EP300	chr6:81276274-81276343	GM12878	blood:	n/a	n/a
5	EP300	chr6:81275533-81275699	GM12878	blood:	n/a	n/a
6	FOS	chr6:81287562-81287818	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:81287611-81287762	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:81274152-81274265	MCF10A-Er-Src	breast:	n/a	chr6:81274216-81274228 chr6:81274217-81274226 chr6:81274218-81274225 chr6:81274218-81274227 chr6:81274217-81274227 chr6:81274218-81274226 chr6:81274232-81274241 chr6:81274219-81274230
9	FOXA1	chr6:81283057-81283344	HepG2	liver:	n/a	n/a
10	FOXA2	chr6:81282864-81283514	A549	lung:	n/a	n/a
11	GATA3	chr6:81276466-81276760	SH-SY5Y	brain:	n/a	chr6:81276678-81276689
12	GATA3	chr6:81276353-81276920	SK-N-SH	brain:	n/a	chr6:81276678-81276689
13	GATA3	chr6:81288808-81288975	SH-SY5Y	brain:	n/a	n/a
14	IRF1	chr6:81274044-81274179	K562	blood:	n/a	n/a
15	JUN	chr6:81274114-81274349	HepG2	liver:	n/a	chr6:81274216-81274228 chr6:81274217-81274226 chr6:81274218-81274225 chr6:81274218-81274227 chr6:81274217-81274227 chr6:81274218-81274226 chr6:81274232-81274241 chr6:81274219-81274230
16	JUND	chr6:81274056-81274392	HepG2	liver:	n/a	chr6:81274216-81274228 chr6:81274217-81274226 chr6:81274218-81274225 chr6:81274218-81274227 chr6:81274217-81274227 chr6:81274218-81274226 chr6:81274232-81274241 chr6:81274216-81274227 chr6:81274219-81274230
17	JUND	chr6:81283122-81283245	HepG2	liver:	n/a	n/a
18	MAFK	chr6:81288271-81288399	HepG2	liver:	n/a	chr6:81288322-81288333 chr6:81288321-81288332 chr6:81288320-81288334 chr6:81288317-81288332
19	MYC	chr6:81273980-81274180	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr6:81284534-81284625	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:81274539-81274550	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:81288194-81288637	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr6:81288199-81288217	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:81283197-81283216	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:81283093-81283265	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:81288837-81289336	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr6:81283010-81283548	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:81289918-81289954	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:81288885-81289293	H1-neurons	neurons:	n/a	n/a
30	SETDB1	chr6:81283663-81284101	U2OS	brain:	n/a	n/a
31	SPI1	chr6:81275516-81275766	GM12891	blood:	n/a	chr6:81275728-81275741
32	STAT3	chr6:81292403-81292428	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:81289182-81289332	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:81283807-81283951	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr6:81287766-81287791	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr6:81283098-81283436	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr6:81283065-81283369	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:81283368-81283418	NH-A	brain:	n/a
2	chr6:81283368-81283418	GM12892	blood:	n/a
3	chr6:81283368-81283418	HCM	heart:	n/a
4	chr6:81283368-81283418	AoSMC	blood vessel:	n/a
5	chr6:81283368-81283418	NT2-D1	testis:	n/a
6	chr6:81283368-81283418	HL-60	blood:	n/a
7	chr6:81283368-81283418	HIPEpiC	eye:	n/a
8	chr6:81283368-81283418	CMK	blood:	n/a
9	chr6:81283368-81283418	ProgFib	skin:	n/a
10	chr6:81283368-81283418	PFSK-1	brain:	n/a
11	chr6:81283368-81283418	Hela-S3	cervix:	n/a
12	chr6:81283368-81283418	Caco-2	colon:	n/a
13	chr6:81283368-81283418	U87	brain:	n/a
14	chr6:81283368-81283418	MCF10A-Er-Src	breast:	n/a
15	chr6:81283368-81283418	IMR90	lung:	fetal
16	chr6:81283368-81283418	AG09319	gingival:	n/a
17	chr6:81283368-81283418	HRPEpiC	eye:	n/a
18	chr6:81283368-81283418	ovcar-3	ovarian:	n/a
19	chr6:81283368-81283418	HCT-116	colon:	n/a
20	chr6:81283368-81283418	HUVEC	blood vessel:	n/a
21	chr6:81283368-81283418	NHBE	bronchial:	n/a
22	chr6:81283368-81283418	AG04450	lung:	fetal
23	chr6:81283368-81283418	NB4	blood:	n/a
24	chr6:81283368-81283418	PANC-1	pancreas:	n/a
25	chr6:81283368-81283418	SK-N-SH_RA	brain:	n/a
26	chr6:81283368-81283418	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:81283368-81283418	K562	blood:	n/a
28	chr6:81283368-81283418	HEEpiC	esophagus:	n/a
29	chr6:81283368-81283418	NHDF-neo	bronchial:	n/a
30	chr6:81283368-81283418	SKMC	muscle:	n/a
31	chr6:81283368-81283418	GM12891	blood:	n/a
32	chr6:81283368-81283418	HepG2	liver:	n/a
33	chr6:81283368-81283418	HNPCEpiC	eye:	n/a
34	chr6:81283368-81283418	GM06990	blood:	n/a
35	chr6:81283368-81283418	HAEpiC	amniotic membrane:	n/a
36	chr6:81283368-81283418	MCF-7	breast:	n/a
37	chr6:81283368-81283418	SAEC	small airway:	n/a
38	chr6:81283368-81283418	GM19239	blood:	n/a
39	chr6:81283368-81283418	HEK293	kidney:	embryo
40	chr6:81283368-81283418	HRE	kidney:	n/a
41	chr6:81283368-81283418	HCPEpiC	choroid plexus:	n/a
42	chr6:81283368-81283418	ECC-1	luminal epithelium:	n/a
43	chr6:81283368-81283418	HCF	heart:	n/a
44	chr6:81283368-81283418	HMEC	breast:	n/a
45	chr6:81283368-81283418	GM12878	blood:	n/a
46	chr6:81283368-81283418	BE2_C	brain:	n/a
47	chr6:81283368-81283418	AG04449	skin:	fetal
48	chr6:81283368-81283418	T-47D	breast:	n/a
49	chr6:81283368-81283418	AG10803	skin:	n/a
50	chr6:81283368-81283418	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81266263..81267805-chr6:81274227..81276426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216352	TF binding region
ENSG00000216352	CpG island
ENSG00000216352	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528057830	chr6:81274228-81274229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145060585	chr6:81274234-81274235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138905808	chr6:81274276-81274277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182120233	chr6:81274290-81274291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12211134	chr6:81274326-81274327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10943720	chr6:81274336-81274337	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536493527	chr6:81274380-81274381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552970191	chr6:81274425-81274426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576545815	chr6:81274447-81274448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573109876	chr6:81274549-81274550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs36100000	chr6:81274563-81274564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538159044	chr6:81274572-81274573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532458198	chr6:81274586-81274587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142039041	chr6:81274627-81274628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558186829	chr6:81274628-81274629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556157914	chr6:81274647-81274648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543928201	chr6:81274677-81274678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570719129	chr6:81274720-81274721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574264360	chr6:81274736-81274737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543237999	chr6:81274766-81274767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144808241	chr6:81274876-81274877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528801482	chr6:81274884-81274885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138580196	chr6:81274892-81274893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564548955	chr6:81274965-81274966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574655789	chr6:81275080-81275081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139278173	chr6:81275093-81275094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201738836	chr6:81275099-81275100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530463439	chr6:81275114-81275115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189758385	chr6:81275131-81275132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34835730	chr6:81275133-81275134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567049438	chr6:81275180-81275181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183082531	chr6:81275200-81275201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546795695	chr6:81275272-81275273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115846469	chr6:81275326-81275327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538934202	chr6:81275369-81275370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188970706	chr6:81275416-81275417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs578069507	chr6:81275535-81275536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72903939	chr6:81275539-81275540	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149327901	chr6:81275563-81275564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117115609	chr6:81275566-81275567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542824323	chr6:81275569-81275570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs193118196	chr6:81275576-81275577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573414590	chr6:81275594-81275595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185305759	chr6:81275597-81275598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565284353	chr6:81275602-81275603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72903940	chr6:81275643-81275644	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116227651	chr6:81275656-81275657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188179859	chr6:81275705-81275706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191684550	chr6:81275722-81275723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545870630	chr6:81275743-81275744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	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
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
Acute lymphoblastic leukemia	17443227	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
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
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
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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81276000-81277400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:81276400-81276800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:81283200-81283600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:81283200-81283600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:81283200-81283800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:81287600-81287800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:81287800-81288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:81287800-81288800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:81288200-81288400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:81288400-81289400	Enhancers	HSMM	muscle
11	chr6:81288800-81289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:81288800-81289200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:81288800-81289200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:81288800-81289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:81288800-81289200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:81288800-81289200	Enhancers	Adipose Nuclei	Adipose
17	chr6:81294800-81317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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