Variant report

Variant	nsv5475
Chromosome Location	chr6:130880169-130924850
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	ATF2	chr6:130897079-130897454	GM12878	blood:	n/a	n/a
2	ATF2	chr6:130882294-130882744	GM12878	blood:	n/a	n/a
3	ATF2	chr6:130914348-130914708	GM12878	blood:	n/a	n/a
4	ATF2	chr6:130897025-130897525	GM12878	blood:	n/a	n/a
5	BATF	chr6:130885163-130885395	GM12878	blood:	n/a	chr6:130885286-130885297
6	BATF	chr6:130885156-130885417	GM12878	blood:	n/a	chr6:130885286-130885297
7	BATF	chr6:130897115-130897445	GM12878	blood:	n/a	n/a
8	BATF	chr6:130914374-130914653	GM12878	blood:	n/a	chr6:130914550-130914561
9	BATF	chr6:130914392-130914685	GM12878	blood:	n/a	chr6:130914550-130914561
10	BCL11A	chr6:130897117-130897465	GM12878	blood:	n/a	n/a
11	BCL11A	chr6:130897119-130897435	GM12878	blood:	n/a	n/a
12	BCLAF1	chr6:130897084-130897598	GM12878	blood:	n/a	n/a
13	BHLHE40	chr6:130897123-130897536	GM12878	blood:	n/a	n/a
14	CBX3	chr6:130922987-130924325	HCT-116	colon:	n/a	n/a
15	CBX3	chr6:130912444-130912918	HCT-116	colon:	n/a	n/a
16	CBX3	chr6:130922854-130924345	HCT-116	colon:	n/a	n/a
17	CCNT2	chr6:130888624-130888775	K562	blood:	n/a	n/a
18	CEBPB	chr6:130902133-130902410	IMR90	lung:	n/a	chr6:130902250-130902261
19	CEBPB	chr6:130893673-130893961	IMR90	lung:	n/a	chr6:130893775-130893788 chr6:130893775-130893786 chr6:130893775-130893788
20	CEBPB	chr6:130909308-130909771	IMR90	lung:	n/a	chr6:130909648-130909661
21	CEBPB	chr6:130914767-130915056	HepG2	liver:	n/a	chr6:130914894-130914905
22	CEBPB	chr6:130893633-130893935	HepG2	liver:	n/a	chr6:130893775-130893788 chr6:130893775-130893786 chr6:130893775-130893788
23	CEBPB	chr6:130914777-130915083	IMR90	lung:	n/a	chr6:130914894-130914905
24	CEBPB	chr6:130893696-130893896	A549	lung:	n/a	chr6:130893775-130893788 chr6:130893775-130893786 chr6:130893775-130893788
25	CEBPB	chr6:130923218-130924456	IMR90	lung:	n/a	chr6:130924144-130924157 chr6:130923399-130923412
26	CEBPB	chr6:130923348-130923740	Hela-S3	cervix:	n/a	chr6:130923399-130923412
27	CEBPB	chr6:130923102-130924176	HCT-116	colon:	n/a	chr6:130924144-130924157 chr6:130923399-130923412
28	CEBPB	chr6:130924441-130924447	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr6:130902140-130902418	HepG2	liver:	n/a	chr6:130902250-130902261
30	CHD2	chr6:130923488-130923717	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr6:130896888-130897590	GM12878	blood:	n/a	n/a
32	CREB1	chr6:130885141-130885462	GM12878	blood:	n/a	n/a
33	CTCF	chr6:130923420-130923570	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr6:130922080-130922230	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr6:130911958-130912079	GM13976	blood:	n/a	n/a
36	CUX1	chr6:130897022-130897725	GM12878	blood:	n/a	n/a
37	E2F4	chr6:130923509-130923790	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr6:130907483-130907612	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr6:130896133-130896285	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr6:130885253-130885350	GM12878	blood:	n/a	n/a
41	EBF1	chr6:130896900-130897779	GM12878	blood:	n/a	chr6:130897603-130897616 chr6:130897605-130897614
42	EBF1	chr6:130882312-130882676	GM12878	blood:	n/a	chr6:130882548-130882559
43	EBF1	chr6:130897148-130897556	GM12878	blood:	n/a	n/a
44	EBF1	chr6:130881506-130881564	GM12878	blood:	n/a	n/a
45	EBF1	chr6:130897214-130897496	GM12878	blood:	n/a	n/a
46	EBF1	chr6:130916006-130916174	GM12878	blood:	n/a	n/a
47	EP300	chr6:130896887-130897606	GM12878	blood:	n/a	chr6:130897402-130897416
48	EP300	chr6:130921804-130922894	SK-N-SH	brain:	n/a	chr6:130922438-130922447
49	EP300	chr6:130909274-130909545	SK-N-SH_RA	brain:	n/a	chr6:130909386-130909395
50	EP300	chr6:130923454-130923754	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:130885144..130887510-chr6:130925182..130927047,2	K562	blood:
2	chr6:130876811..130878612-chr6:130880460..130883120,2	K562	blood:
3	chr6:130873679..130876307-chr6:130911669..130914160,2	K562	blood:
4	chr17:56708616..56709251-chr6:130881822..130882325,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM200A-1	chr6:130917300-130917756	NONHSAT114904

Variant related genes	Relation type
ENSG00000202438	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1952 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1952 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113589022	chr6:130880270-130880271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139320173	chr6:130880276-130880277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564934872	chr6:130880317-130880318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577664243	chr6:130880330-130880331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536300028	chr6:130880343-130880344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545165559	chr6:130880449-130880450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558343741	chr6:130880463-130880464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185672322	chr6:130880469-130880470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76342384	chr6:130880481-130880482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189211803	chr6:130880524-130880525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529588021	chr6:130880551-130880552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541410863	chr6:130880590-130880591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112979178	chr6:130880604-130880605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201426288	chr6:130880649-130880650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181648358	chr6:130880661-130880662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34569593	chr6:130880682-130880683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113888896	chr6:130880685-130880686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113178730	chr6:130880739-130880740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540956562	chr6:130880754-130880755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533211523	chr6:130880756-130880757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34531065	chr6:130880792-130880793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559267498	chr6:130880810-130880811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368395182	chr6:130880816-130880817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1318442	chr6:130880823-130880824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569487130	chr6:130880828-130880829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530636221	chr6:130880849-130880850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529619166	chr6:130880865-130880866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114135933	chr6:130880868-130880869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567532574	chr6:130880876-130880877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2876084	chr6:130880888-130880889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150233776	chr6:130880924-130880925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552924532	chr6:130881028-130881029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186858949	chr6:130881063-130881064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374445802	chr6:130881103-130881104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76738607	chr6:130881124-130881125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192023153	chr6:130881131-130881132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182235619	chr6:130881163-130881164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569374280	chr6:130881167-130881168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555731198	chr6:130881190-130881191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114414902	chr6:130881192-130881193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541368439	chr6:130881205-130881206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4144216	chr6:130881219-130881220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577635056	chr6:130881224-130881225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545067315	chr6:130881234-130881235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12526873	chr6:130881244-130881245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116948440	chr6:130881250-130881251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539264156	chr6:130881270-130881271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113770418	chr6:130881273-130881274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77289403	chr6:130881284-130881285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560966550	chr6:130881299-130881300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164919	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130879200-130881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:130879400-130881400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:130880000-130882200	Enhancers	HSMMtube	muscle
4	chr6:130880200-130882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:130880400-130880600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:130880400-130881200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:130880400-130882200	Enhancers	NH-A	brain
8	chr6:130880600-130881600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:130880600-130881800	Enhancers	Osteobl	bone
10	chr6:130881000-130882000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:130881200-130882200	Enhancers	HSMM	muscle
12	chr6:130881400-130881800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:130881400-130881800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:130881600-130882200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:130881600-130882400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:130882000-130882600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:130882000-130882600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:130882000-130883000	Enhancers	Primary T cells from cord blood	blood
19	chr6:130882000-130883000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:130882000-130883000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:130882000-130883200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:130882200-130882600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:130882200-130883000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:130882200-130883000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:130882200-130883200	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:130882200-130883400	Weak transcription	HSMMtube	muscle
27	chr6:130882400-130882800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:130882400-130883000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:130882600-130894400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:130882800-130884400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:130883400-130883600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:130883400-130883600	Enhancers	HSMMtube	muscle
33	chr6:130884600-130884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:130893800-130894000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:130893800-130896800	Enhancers	Dnd41	blood
36	chr6:130894200-130894400	Enhancers	Thymus	Thymus
37	chr6:130894200-130897200	Enhancers	Primary T cells from cord blood	blood
38	chr6:130894200-130899000	Enhancers	Fetal Thymus	thymus
39	chr6:130894400-130895400	Weak transcription	Thymus	Thymus
40	chr6:130894400-130896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:130894400-130896800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:130894400-130897000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:130894400-130897200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:130894600-130897000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:130895000-130897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr6:130895200-130895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:130895200-130900000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:130895400-130896400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:130895400-130898000	Enhancers	Thymus	Thymus
50	chr6:130895600-130895800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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