Variant report

Variant	nsv886586
Chromosome Location	chr6:120968061-121020821
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	chr6:120992783-120993039	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr6:120992784-120992859	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:121002362-121002861	HepG2	liver:	n/a	chr6:121002517-121002528
4	CEBPB	chr6:120973751-120973951	H1-hESC	embryonic stem cell:	n/a	chr6:120973878-120973887 chr6:120973878-120973887 chr6:120973878-120973887 chr6:120973878-120973889 chr6:120973876-120973889 chr6:120973876-120973887 chr6:120973878-120973887
5	CEBPB	chr6:121002340-121002925	Hela-S3	cervix:	n/a	chr6:121002517-121002528
6	CEBPB	chr6:120973730-120974036	HepG2	liver:	n/a	chr6:120973878-120973887 chr6:120973878-120973887 chr6:120973878-120973887 chr6:120973878-120973889 chr6:120973876-120973889 chr6:120973876-120973887 chr6:120973878-120973887
7	CHD1	chr6:120992747-120992906	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:120992740-120992890	GM12866	blood:	n/a	n/a
9	CTCF	chr6:120992843-120992902	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr6:120992740-120992890	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:120992800-120992950	HepG2	liver:	n/a	n/a
12	CTCF	chr6:121004135-121004187	LNCaP	prostate:	n/a	n/a
13	CTCF	chr6:120992808-120992951	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:120992800-120992950	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr6:121004435-121004468	GM13976	blood:	n/a	n/a
16	CTCF	chr6:120992780-120992930	HEK293	kidney:	n/a	n/a
17	CTCF	chr6:120992820-120992970	A549	lung:	n/a	n/a
18	CTCF	chr6:120992801-120992917	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:120992860-120993010	HCT-116	colon:	n/a	n/a
20	CTCF	chr6:120992800-120992950	Caco-2	colon:	n/a	n/a
21	CTCF	chr6:120992760-120992910	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr6:120992820-120992970	HEK293	kidney:	n/a	n/a
23	CTCF	chr6:120992860-120993010	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:120992840-120992990	GM12872	blood:	n/a	n/a
25	CTCF	chr6:120992740-120992890	NHEK	skin:	n/a	n/a
26	CTCF	chr6:120980381-120980474	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr6:120992824-120992898	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:120992760-120992910	NB4	blood:	n/a	n/a
29	CTCF	chr6:120992820-120992970	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr6:120992820-120992970	GM12874	blood:	n/a	n/a
31	CTCF	chr6:120992820-120992970	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:120992740-120992890	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:120992920-120993070	HCT-116	colon:	n/a	n/a
34	CTCF	chr6:120987594-120987652	GM10248	blood:	n/a	n/a
35	E2F4	chr6:120969962-120970167	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr6:121017036-121017231	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr6:121006009-121006016	GM12878	blood:	n/a	n/a
38	EP300	chr6:121002261-121002872	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr6:121001137-121001440	SK-N-SH_RA	brain:	n/a	chr6:121001161-121001175
40	EP300	chr6:121002105-121003063	SK-N-SH	brain:	n/a	n/a
41	EP300	chr6:121002251-121002820	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr6:121002442-121002721	Hela-S3	cervix:	n/a	n/a
43	EP300	chr6:121001174-121001558	SK-N-SH_RA	brain:	n/a	n/a
44	FOS	chr6:120997044-120997414	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:120997026-120997362	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr6:120997126-120997346	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:120969838-120970241	MCF10A-Er-Src	breast:	n/a	chr6:120970030-120970039 chr6:120970031-120970038 chr6:120970029-120970039 chr6:120970030-120970038 chr6:120970029-120970038
48	FOS	chr6:120969262-120969512	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:120969868-120970242	MCF10A-Er-Src	breast:	n/a	chr6:120970030-120970039 chr6:120970031-120970038 chr6:120970029-120970039 chr6:120970030-120970038 chr6:120970029-120970038
50	FOS	chr6:120969858-120970266	MCF10A-Er-Src	breast:	n/a	chr6:120970030-120970039 chr6:120970031-120970038 chr6:120970029-120970039 chr6:120970030-120970038 chr6:120970029-120970038

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120982954..120983881-chr6:120993670..120994654,2	MCF-7	breast:
2	chr6:120982954..120983881-chr6:120993670..120994654,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP215	TF binding region

Extended variants
information (count: 883 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1320552	chr6:120968061-120968062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183563036	chr6:120968062-120968063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529548920	chr6:120968069-120968070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373761429	chr6:120968078-120968079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188734692	chr6:120968122-120968123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13214897	chr6:120968211-120968212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562589136	chr6:120968244-120968245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531587998	chr6:120968272-120968273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181245842	chr6:120968323-120968324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386705283	chr6:120968332-120968333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1320554	chr6:120968340-120968341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527752513	chr6:120968351-120968352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546487525	chr6:120968422-120968423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566622043	chr6:120968474-120968475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4946505	chr6:120968561-120968562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549291426	chr6:120968564-120968565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6920772	chr6:120968595-120968596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182469750	chr6:120969205-120969206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5017483	chr6:120969228-120969229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6922392	chr6:120969284-120969285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6901991	chr6:120969287-120969288	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6922409	chr6:120969306-120969307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6902004	chr6:120969316-120969317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561348297	chr6:120969387-120969388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6902170	chr6:120969390-120969391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75852366	chr6:120969439-120969440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562661293	chr6:120969462-120969463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375152080	chr6:120969465-120969466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539615832	chr6:120969491-120969492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551646674	chr6:120969493-120969494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185267813	chr6:120969539-120969540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527263439	chr6:120969544-120969545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369697772	chr6:120969557-120969558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534706185	chr6:120969620-120969621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547118238	chr6:120969753-120969754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556817684	chr6:120969773-120969774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74779298	chr6:120969795-120969796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73770307	chr6:120969810-120969811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556342605	chr6:120969825-120969826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6927658	chr6:120969870-120969871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539004389	chr6:120969876-120969877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557600765	chr6:120969923-120969924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62442956	chr6:120969978-120969979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572380113	chr6:120969999-120970000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4330561	chr6:120970001-120970002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554970751	chr6:120970018-120970019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574463193	chr6:120970059-120970060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376301468	chr6:120970065-120970066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190863005	chr6:120970084-120970085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4548042	chr6:120970102-120970103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

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
Cancer	20164920	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
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120966600-120968600	Enhancers	Fetal Lung	lung
2	chr6:120967800-120968200	Enhancers	Fetal Brain Male	brain
3	chr6:120969200-120969800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:120969800-120970400	Enhancers	HMEC	breast
5	chr6:120971000-120979400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:120979200-120980800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:120980800-120981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:120991400-120992000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:120992000-120992400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:120992400-120993000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:120993000-120993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:120993400-120993600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:120997000-120997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:120997000-120997600	Enhancers	Hela-S3	cervix
15	chr6:120997000-120997600	Enhancers	HMEC	breast
16	chr6:120997600-121002200	Weak transcription	Hela-S3	cervix
17	chr6:120997600-121002400	Weak transcription	HMEC	breast
18	chr6:121002200-121002800	Enhancers	Hela-S3	cervix
19	chr6:121002400-121002800	Enhancers	HMEC	breast
20	chr6:121009800-121010400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:121010000-121010400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:121010000-121010400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:121010000-121010400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:121010000-121010400	Active TSS	HUES64 Cell Line	embryonic stem cell

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