Variant report

Variant	nsv886176
Chromosome Location	chr6:75539434-75577359
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	ARID3A	chr6:75566931-75567251	HepG2	liver:	n/a	n/a
2	BACH1	chr6:75557714-75557743	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:75558084-75558360	HepG2	liver:	n/a	chr6:75558204-75558215
4	CEBPB	chr6:75566890-75567103	A549	lung:	n/a	n/a
5	CEBPB	chr6:75566891-75567091	HepG2	liver:	n/a	n/a
6	CTCF	chr6:75540693-75540747	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr6:75553140-75553290	HPAF	blood vessel:	n/a	n/a
8	FOS	chr6:75561583-75561655	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:75566098-75566223	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:75566932-75567111	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:75567056-75567098	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:75561445-75561586	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr6:75566883-75567145	HepG2	liver:	n/a	n/a
14	IRF1	chr6:75541667-75541685	K562	blood:	n/a	n/a
15	MAFK	chr6:75566735-75566768	HepG2	liver:	n/a	n/a
16	MAFK	chr6:75565494-75565694	HepG2	liver:	n/a	chr6:75565570-75565584 chr6:75565567-75565583 chr6:75565571-75565582 chr6:75565572-75565583 chr6:75565572-75565583
17	MAFK	chr6:75558666-75558812	HepG2	liver:	n/a	chr6:75558717-75558733 chr6:75558718-75558729
18	MYC	chr6:75561384-75561584	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr6:75561020-75561042	MCF-7	breast:	n/a	n/a
20	MYC	chr6:75561054-75561063	MCF-7	breast:	n/a	n/a
21	NRF1	chr6:75576981-75577097	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:75561392-75561538	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:75552190-75552205	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:75554972-75555007	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr6:75553253-75553366	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:75556742-75556802	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:75572450-75572551	ProgFib	skin:	n/a	n/a
28	POLR2A	chr6:75550857-75550926	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:75552060-75552189	HUVEC	blood vessel:	n/a	n/a
30	RFX5	chr6:75542072-75542128	K562	blood:	n/a	n/a
31	STAT1	chr6:75561591-75561610	GM12878	blood:	n/a	n/a
32	STAT3	chr6:75564065-75564075	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:75568599-75568788	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:75568976-75568980	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr6:75575438-75575631	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr6:75572861-75573008	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr6:75540730-75540930	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr6:75561429-75561969	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL12A1-2	chr6:75558793-75560200	NONHSAT113595

Variant related genes	Relation type
ENSG00000219736	TF binding region

Extended variants
information (count: 428 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558612637	chr6:75544419-75544420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557839946	chr6:75544435-75544436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73456127	chr6:75544443-75544444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577012021	chr6:75544453-75544454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114181120	chr6:75544461-75544462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544378427	chr6:75544462-75544463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562508768	chr6:75544513-75544514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574028864	chr6:75544526-75544527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541321991	chr6:75544582-75544583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79528332	chr6:75544607-75544608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191473102	chr6:75544630-75544631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183740544	chr6:75544638-75544639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564619621	chr6:75544642-75544643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531695877	chr6:75544739-75544740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542099256	chr6:75544747-75544748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186105427	chr6:75544761-75544762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7753687	chr6:75544801-75544802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373493967	chr6:75544819-75544820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376787940	chr6:75544826-75544827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547694018	chr6:75544835-75544836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548744895	chr6:75544840-75544841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190912918	chr6:75544861-75544862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58749757	chr6:75544873-75544874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557437463	chr6:75544874-75544875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569769339	chr6:75544884-75544885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9360855	chr6:75544942-75544943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555638936	chr6:75544958-75544959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9343238	chr6:75545026-75545027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541177993	chr6:75545027-75545028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9352165	chr6:75545029-75545030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532632946	chr6:75545038-75545039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35093030	chr6:75545048-75545049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569083764	chr6:75545074-75545075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140695306	chr6:75545096-75545097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564300318	chr6:75545097-75545098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531881649	chr6:75545100-75545101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543543521	chr6:75545115-75545116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183452447	chr6:75545116-75545117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186591789	chr6:75545153-75545154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561807038	chr6:75545184-75545185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147559883	chr6:75558853-75558854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111667152	chr6:75558905-75558906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs191107167	chr6:75558906-75558907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4112829	chr6:75558947-75558948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536540315	chr6:75558979-75558980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs6931755	chr6:75559018-75559019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs77921955	chr6:75559038-75559039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567772011	chr6:75559095-75559096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183655483	chr6:75559110-75559111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs533508659	chr6:75559160-75559161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Malignant fibrous histiocytomas	21085701	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
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75544400-75545200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:75561000-75561400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:75561000-75561400	Enhancers	Adipose Nuclei	Adipose
4	chr6:75561000-75561800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:75561000-75561800	Enhancers	NHDF-Ad	bronchial
6	chr6:75561000-75562200	Enhancers	HSMM	muscle
7	chr6:75561000-75562200	Enhancers	HSMMtube	muscle
8	chr6:75561000-75562400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:75561200-75561800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:75562200-75563400	Weak transcription	HSMM	muscle
11	chr6:75562400-75562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:75562800-75563800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:75563000-75563600	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:75563000-75564000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:75563200-75563600	Enhancers	Ovary	ovary
16	chr6:75563200-75563800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:75563600-75563800	Enhancers	HSMM	muscle
18	chr6:75563600-75564400	Weak transcription	Ovary	ovary
19	chr6:75564400-75564600	Enhancers	Ovary	ovary
20	chr6:75571000-75577000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:75572400-75575400	Enhancers	Ovary	ovary
22	chr6:75573000-75573400	Enhancers	Fetal Kidney	kidney
23	chr6:75575200-75575400	Enhancers	HSMMtube	muscle
24	chr6:75575400-75576200	Weak transcription	Ovary	ovary
25	chr6:75575400-75580400	Weak transcription	HSMMtube	muscle
26	chr6:75576200-75576600	Enhancers	Ovary	ovary
27	chr6:75576400-75577200	Enhancers	HSMM	muscle
28	chr6:75576400-75577800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:75577000-75577600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:75577200-75580600	Weak transcription	HSMM	muscle

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