Variant report

Variant	nsv969444
Chromosome Location	chr6:131787054-131791399
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	chr6:131790006-131790167	K562	blood:	n/a	chr6:131790065-131790076
2	CEBPB	chr6:131789965-131790244	HepG2	liver:	n/a	chr6:131790065-131790076
3	CEBPB	chr6:131789925-131790191	A549	lung:	n/a	chr6:131790065-131790076
4	GATA3	chr6:131789684-131790082	MCF-7	breast:	n/a	chr6:131789882-131789903
5	GATA3	chr6:131789537-131790092	MCF-7	breast:	n/a	chr6:131789882-131789903
6	NR2F2	chr6:131789608-131789991	MCF-7	breast:	n/a	chr6:131789817-131789832
7	POLR2A	chr6:131787314-131787498	GM12878	blood:	n/a	n/a
8	STAT3	chr6:131787315-131787438	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131784710..131787393-chr6:131791820..131794235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARG1-4	chr6:131790199-131790676	NONHSAT114917

Variant related genes	Relation type
RPL21P67	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34659496	chr6:131787061-131787062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560750343	chr6:131787072-131787073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191205471	chr6:131787140-131787141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113690257	chr6:131787276-131787277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535446415	chr6:131787289-131787290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550670795	chr6:131787292-131787293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544777921	chr6:131787346-131787347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563289974	chr6:131787405-131787406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371517637	chr6:131787440-131787441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs544076693	chr6:131787505-131787506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147491125	chr6:131787551-131787552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568877913	chr6:131787555-131787556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370255570	chr6:131787581-131787582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202139146	chr6:131787623-131787624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142631401	chr6:131787626-131787627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112388563	chr6:131787894-131787895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183116728	chr6:131787898-131787899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140065846	chr6:131787904-131787905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55873256	chr6:131788025-131788026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75591767	chr6:131788028-131788029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551625343	chr6:131788041-131788042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143956260	chr6:131788048-131788049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13212884	chr6:131788071-131788072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs58339039	chr6:131788074-131788075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533152163	chr6:131788105-131788106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116363977	chr6:131788132-131788133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553154718	chr6:131788135-131788136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372858952	chr6:131788210-131788211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577957214	chr6:131788213-131788214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191736027	chr6:131788264-131788265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183504067	chr6:131788291-131788292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575153143	chr6:131788292-131788293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187836052	chr6:131788318-131788319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191589609	chr6:131788319-131788320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373395560	chr6:131788405-131788406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573949601	chr6:131788409-131788410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553248775	chr6:131788467-131788468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139938335	chr6:131788494-131788495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376523220	chr6:131788516-131788517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533396554	chr6:131788544-131788545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553258141	chr6:131788628-131788629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529699836	chr6:131788636-131788637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73627670	chr6:131788720-131788721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546328987	chr6:131788726-131788727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531052251	chr6:131788727-131788728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34400208	chr6:131788806-131788807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549065210	chr6:131788890-131788891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567664432	chr6:131788906-131788907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145454513	chr6:131788915-131788916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546954462	chr6:131788929-131788930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131782200-131790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:131783200-131789800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:131789800-131792000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:131790200-131791400	Enhancers	Osteobl	bone
5	chr6:131790400-131790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:131790600-131792000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:131790800-131792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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