Variant report

Variant	nsv5481
Chromosome Location	chr6:133311665-133374548
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	chr6:133355542-133356273	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:133361164-133361458	HepG2	liver:	n/a	n/a
3	ATF1	chr6:133362201-133362491	K562	blood:	n/a	n/a
4	BACH1	chr6:133319530-133319547	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr6:133362168-133362430	K562	blood:	n/a	n/a
6	CCNT2	chr6:133362206-133362413	K562	blood:	n/a	n/a
7	CEBPB	chr6:133314880-133314947	HepG2	liver:	n/a	chr6:133314915-133314928
8	CEBPB	chr6:133372424-133372797	HepG2	liver:	n/a	chr6:133372600-133372611
9	CEBPB	chr6:133361463-133361740	HepG2	liver:	n/a	chr6:133361621-133361632
10	CEBPB	chr6:133356091-133356329	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:133372460-133372753	H1-hESC	embryonic stem cell:	n/a	chr6:133372600-133372611
12	CEBPB	chr6:133355592-133356496	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:133365525-133365790	HepG2	liver:	n/a	n/a
14	CEBPB	chr6:133372446-133372693	Hela-S3	cervix:	n/a	chr6:133372600-133372611
15	CEBPB	chr6:133372433-133372773	IMR90	lung:	n/a	chr6:133372600-133372611
16	CEBPB	chr6:133372429-133372759	A549	lung:	n/a	chr6:133372600-133372611
17	CEBPB	chr6:133372411-133372758	MCF-7	breast:	n/a	chr6:133372600-133372611
18	CEBPB	chr6:133338846-133339104	IMR90	lung:	n/a	n/a
19	CEBPD	chr6:133362128-133362451	K562	blood:	n/a	n/a
20	CEBPD	chr6:133362148-133362522	K562	blood:	n/a	n/a
21	CTCF	chr6:133361081-133361614	MCF-7	breast:	n/a	chr6:133361328-133361341
22	CTCF	chr6:133361260-133361410	GM12866	blood:	n/a	chr6:133361328-133361341
23	CTCF	chr6:133365500-133365650	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr6:133361220-133361370	NHEK	skin:	n/a	chr6:133361328-133361341
25	CTCF	chr6:133361310-133361392	NHEK	skin:	n/a	chr6:133361328-133361341
26	CTCF	chr6:133361240-133361390	HCFaa	heart:	n/a	chr6:133361328-133361341
27	CTCF	chr6:133361260-133361410	HA-sp	spinal cord:	n/a	chr6:133361328-133361341
28	CTCF	chr6:133361240-133361390	GM06990	blood:	n/a	chr6:133361328-133361341
29	CTCF	chr6:133361220-133361438	K562	blood:	n/a	chr6:133361328-133361341
30	CTCF	chr6:133361180-133361330	WI-38	lung:	n/a	n/a
31	CTCF	chr6:133361243-133361422	Spleen_OC	spleen:	n/a	chr6:133361328-133361341
32	CTCF	chr6:133361018-133361596	HepG2	liver:	n/a	chr6:133361328-133361341
33	CTCF	chr6:133361280-133361430	NHDF-neo	bronchial:	n/a	chr6:133361328-133361341
34	CTCF	chr6:133361300-133361450	HAc	cerebellar:	n/a	chr6:133361328-133361341
35	CTCF	chr6:133361300-133361450	GM12865	blood:	n/a	chr6:133361328-133361341
36	CTCF	chr6:133361176-133361461	HepG2	liver:	n/a	chr6:133361328-133361341
37	CTCF	chr6:133361260-133361410	GM12864	blood:	n/a	chr6:133361328-133361341
38	CTCF	chr6:133361260-133361410	HRPEpiC	eye:	n/a	chr6:133361328-133361341
39	CTCF	chr6:133361280-133361430	AG04450	lung:	n/a	chr6:133361328-133361341
40	CTCF	chr6:133361200-133361350	HFF-Myc	foreskin:	n/a	chr6:133361328-133361341
41	CTCF	chr6:133361180-133361330	GM12872	blood:	n/a	n/a
42	CTCF	chr6:133361267-133361399	GM10248	blood:	n/a	chr6:133361328-133361341
43	CTCF	chr6:133361260-133361410	HMF	breast:	n/a	chr6:133361328-133361341
44	CTCF	chr6:133361284-133361387	SK-N-SH_RA	brain:	n/a	chr6:133361328-133361341
45	CTCF	chr6:133365560-133365710	HEK293	kidney:	n/a	n/a
46	CTCF	chr6:133361240-133361390	Caco-2	colon:	n/a	chr6:133361328-133361341
47	CTCF	chr6:133361301-133361385	Lung_OC	lung:	n/a	chr6:133361328-133361341
48	CTCF	chr6:133361280-133361430	HRPEpiC	eye:	n/a	chr6:133361328-133361341
49	CTCF	chr6:133361130-133361457	A549	lung:	n/a	chr6:133361328-133361341
50	CTCF	chr6:133365420-133365570	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133309304..133312281-chr6:133315073..133317662,2	K562	blood:
2	chr6:133320939..133323538-chr6:133327450..133329391,2	K562	blood:
3	chr6:133298843..133300922-chr6:133348879..133351431,2	MCF-7	breast:
4	chr6:133143184..133145778-chr6:133351555..133353623,2	K562	blood:
5	chr6:133334025..133335821-chr6:133338425..133340527,2	K562	blood:
6	chr6:133283886..133284848-chr6:133360811..133361796,7	MCF-7	breast:
7	chr6:133371252..133373949-chr6:133374893..133377251,2	K562	blood:
8	chr6:133284240..133284797-chr6:133360868..133361418,2	K562	blood:
9	chr6:133310455..133312412-chr6:133314715..133317442,2	K562	blood:
10	chr6:133286155..133286849-chr6:133360880..133361773,3	MCF-7	breast:
11	chr6:133334025..133335821-chr6:133338425..133340527,2	K562	blood:
12	chr6:133350605..133352698-chr6:133358690..133361519,2	MCF-7	breast:
13	chr6:133309304..133312281-chr6:133315073..133317662,2	K562	blood:
14	chr6:133313616..133315595-chr6:133317513..133319296,2	MCF-7	breast:
15	chr6:133350605..133352698-chr6:133358690..133361519,2	MCF-7	breast:
16	chr6:133283881..133284739-chr6:133360893..133361401,2	MCF-7	breast:
17	chr6:133352133..133352653-chr9:23112962..23113483,3	MCF-7	breast:
18	chr6:133320939..133323538-chr6:133327450..133329391,2	K562	blood:
19	chr6:133136010..133137577-chr6:133349249..133350798,2	MCF-7	breast:
20	chr6:133310455..133312412-chr6:133314715..133317442,2	K562	blood:
21	chr6:133140486..133142664-chr6:133322602..133325155,3	K562	blood:
22	chr6:133142071..133143902-chr6:133355082..133357821,2	MCF-7	breast:

Variant related genes	Relation type
RPL23AP46	TF binding region
ENSG00000213122	chromatin interactions
ENSG00000206754	chromatin interactions

Extended variants
information (count: 1512 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187000386	chr6:133313640-133313641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544770207	chr6:133313641-133313642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561487775	chr6:133313660-133313661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530266514	chr6:133313667-133313668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368366867	chr6:133313715-133313716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375301856	chr6:133313740-133313741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12195746	chr6:133313831-133313832	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113641002	chr6:133313840-133313841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148583885	chr6:133313845-133313846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191929287	chr6:133313873-133313874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142516624	chr6:133313874-133313875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529219643	chr6:133313913-133313914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112192417	chr6:133313922-133313923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73777010	chr6:133313924-133313925	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550673520	chr6:133313934-133313935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536082097	chr6:133313936-133313937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150919730	chr6:133314009-133314010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536513961	chr6:133314010-133314011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569234836	chr6:133314013-133314014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538992680	chr6:133314023-133314024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558994451	chr6:133314032-133314033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140790070	chr6:133314056-133314057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145835592	chr6:133314058-133314059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554992079	chr6:133314066-133314067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186918340	chr6:133314070-133314071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115262706	chr6:133314072-133314073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376703538	chr6:133314083-133314084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559359645	chr6:133314118-133314119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192442303	chr6:133314122-133314123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544579683	chr6:133314139-133314140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147793928	chr6:133314171-133314172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75003120	chr6:133314255-133314256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530455186	chr6:133314261-133314262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200176341	chr6:133314272-133314273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141364117	chr6:133314285-133314286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185439967	chr6:133314291-133314292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111654210	chr6:133314319-133314320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529887643	chr6:133314320-133314321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs271172	chr6:133314323-133314324	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566798057	chr6:133314335-133314336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566910283	chr6:133314336-133314337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539156300	chr6:133314374-133314375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535289229	chr6:133314496-133314497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113415692	chr6:133314508-133314509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs271171	chr6:133314509-133314510	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138231741	chr6:133314551-133314552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575042936	chr6:133314569-133314570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534357817	chr6:133314666-133314667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111956961	chr6:133314702-133314703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572572264	chr6:133314727-133314728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133315000-133315200	Enhancers	Fetal Muscle Leg	muscle
2	chr6:133315000-133315200	Enhancers	Psoas Muscle	Psoas
3	chr6:133315000-133315200	Enhancers	HSMMtube	muscle
4	chr6:133315200-133322000	Weak transcription	Psoas Muscle	Psoas
5	chr6:133315400-133316200	Weak transcription	HSMMtube	muscle
6	chr6:133315400-133316600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:133316000-133317600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:133316200-133317000	Enhancers	Brain Angular Gyrus	brain
9	chr6:133316200-133317600	Enhancers	HSMMtube	muscle
10	chr6:133316400-133316600	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr6:133316600-133316800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr6:133316600-133317000	Enhancers	Brain Anterior Caudate	brain
13	chr6:133316600-133317000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:133316600-133317400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:133316600-133317400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:133316600-133317400	Enhancers	Brain Substantia Nigra	brain
17	chr6:133316600-133317600	Enhancers	Brain Hippocampus Middle	brain
18	chr6:133316800-133317600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:133317200-133317400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:133317400-133319000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:133317400-133319800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:133317600-133318800	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:133317600-133320000	Weak transcription	HSMMtube	muscle
24	chr6:133318000-133319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:133318800-133322400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:133319000-133319400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:133319000-133319400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:133319000-133319600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:133319200-133319400	Enhancers	Brain Hippocampus Middle	brain
30	chr6:133319400-133320800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:133319800-133320000	Enhancers	Brain Substantia Nigra	brain
32	chr6:133320000-133320600	Enhancers	HSMMtube	muscle
33	chr6:133320200-133321000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:133320400-133320800	Enhancers	HepG2	liver
35	chr6:133320800-133321000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:133322000-133322200	Enhancers	Psoas Muscle	Psoas
37	chr6:133322200-133322600	Weak transcription	Psoas Muscle	Psoas
38	chr6:133322200-133323000	Enhancers	HMEC	breast
39	chr6:133322600-133323000	Enhancers	Psoas Muscle	Psoas
40	chr6:133325800-133326000	Enhancers	HepG2	liver
41	chr6:133326800-133328400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:133327200-133328000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:133327800-133328400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:133327800-133328400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:133328000-133328400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:133328400-133332200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:133332200-133332800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:133334000-133334200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:133337000-133338400	Enhancers	Fetal Lung	lung
50	chr6:133354600-133355400	Enhancers	HepG2	liver

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