Variant report

Variant	nsv969443
Chromosome Location	chr6:127002731-127013669
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	CBX3	chr6:127013079-127013523	HCT-116	colon:	n/a	n/a
2	CEBPB	chr6:127003606-127003962	A549	lung:	n/a	chr6:127003768-127003779
3	CEBPB	chr6:127011338-127011445	K562	blood:	n/a	chr6:127011420-127011431
4	CEBPB	chr6:127003619-127003918	H1-hESC	embryonic stem cell:	n/a	chr6:127003768-127003779
5	CEBPB	chr6:127003628-127003898	ECC-1	luminal epithelium:	n/a	chr6:127003768-127003779
6	CEBPB	chr6:127003511-127004009	A549	lung:	n/a	chr6:127003768-127003779
7	CEBPB	chr6:127005831-127005920	A549	lung:	n/a	n/a
8	CEBPB	chr6:127003595-127003968	HepG2	liver:	n/a	chr6:127003768-127003779
9	CEBPB	chr6:127003605-127004007	MCF-7	breast:	n/a	chr6:127003768-127003779
10	CEBPB	chr6:127011299-127011406	A549	lung:	n/a	n/a
11	CEBPB	chr6:127003586-127003946	ECC-1	luminal epithelium:	n/a	chr6:127003768-127003779
12	CEBPB	chr6:127003596-127003972	Hela-S3	cervix:	n/a	chr6:127003768-127003779
13	CEBPB	chr6:127011269-127011833	HepG2	liver:	n/a	chr6:127011420-127011431
14	CEBPB	chr6:127003599-127003960	IMR90	lung:	n/a	chr6:127003768-127003779
15	CEBPB	chr6:127005846-127006013	HepG2	liver:	n/a	chr6:127005978-127005989
16	CEBPB	chr6:127003623-127003917	MCF-7	breast:	n/a	chr6:127003768-127003779
17	CEBPB	chr6:127003703-127003867	HepG2	liver:	n/a	chr6:127003768-127003779
18	CEBPB	chr6:127011272-127011546	IMR90	lung:	n/a	chr6:127011420-127011431
19	CEBPB	chr6:127003597-127003941	K562	blood:	n/a	chr6:127003768-127003779
20	E2F4	chr6:127003607-127003885	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:127003633-127003914	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:127003653-127003965	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr6:127004475-127004666	HepG2	liver:	n/a	chr6:127004588-127004599
24	MAFK	chr6:127006281-127006394	HepG2	liver:	n/a	n/a
25	MAZ	chr6:127011817-127012080	HepG2	liver:	n/a	n/a
26	MYC	chr6:127003812-127004046	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr6:127003751-127003979	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:127011196-127011269	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:127008639-127008821	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr6:127003638-127003980	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:127003154-127004091	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPS4XP9	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs853961	chr6:127003464-127003465	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142770130	chr6:127003489-127003490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542421622	chr6:127003616-127003617	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138686391	chr6:127003661-127003662	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561001622	chr6:127003662-127003663	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373912718	chr6:127003771-127003772	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565097353	chr6:127003774-127003775	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187583334	chr6:127003799-127003800	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550778809	chr6:127003804-127003805	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs141618250	chr6:127003844-127003845	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs193003357	chr6:127003855-127003856	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115742655	chr6:127003857-127003858	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184025017	chr6:127003858-127003859	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188972637	chr6:127003892-127003893	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192651231	chr6:127003893-127003894	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538890329	chr6:127003897-127003898	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146221736	chr6:127003926-127003927	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538086428	chr6:127003936-127003937	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs79107810	chr6:127003991-127003992	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575335288	chr6:127003992-127003993	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs34778206	chr6:127004047-127004048	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535924066	chr6:127004050-127004051	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537847210	chr6:127004073-127004074	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183750366	chr6:127004074-127004075	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188415967	chr6:127004088-127004089	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs540547930	chr6:127004095-127004096	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76774505	chr6:127004114-127004115	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529805192	chr6:127004123-127004124	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142488649	chr6:127004152-127004153	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115079851	chr6:127004170-127004171	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150510475	chr6:127004171-127004172	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530222321	chr6:127004174-127004175	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541913720	chr6:127004175-127004176	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560558351	chr6:127004204-127004205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17054012	chr6:127004213-127004214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373861426	chr6:127004225-127004226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552140851	chr6:127004280-127004281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570840320	chr6:127004310-127004311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531974086	chr6:127004339-127004340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531872552	chr6:127004360-127004361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550357438	chr6:127004370-127004371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139958954	chr6:127004381-127004382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368184787	chr6:127004413-127004414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536366244	chr6:127004436-127004437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554332734	chr6:127004485-127004486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149856478	chr6:127004491-127004492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533799534	chr6:127004519-127004520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145806646	chr6:127004571-127004572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577251074	chr6:127004598-127004599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544479042	chr6:127004603-127004604	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127003600-127003800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:127003600-127003800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:127003600-127004000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:127003600-127004200	Enhancers	Adipose Nuclei	Adipose
5	chr6:127003800-127004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:127003800-127004200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:127003800-127005000	Enhancers	Liver	Liver
8	chr6:127004200-127004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:127005800-127008400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:127013400-127018400	Weak transcription	Colon Smooth Muscle	Colon

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