Variant report

Variant	nsv5530
Chromosome Location	chr6:148954051-148998924
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	chr6:148998434-148999746	GM12878	blood:	n/a	n/a
2	ATF2	chr6:148958745-148959283	GM12878	blood:	n/a	n/a
3	ATF2	chr6:148998432-148999710	GM12878	blood:	n/a	n/a
4	ATF2	chr6:148978139-148978533	GM12878	blood:	n/a	n/a
5	ATF2	chr6:148978138-148978517	GM12878	blood:	n/a	n/a
6	BATF	chr6:148998714-148999058	GM12878	blood:	n/a	n/a
7	BATF	chr6:148998654-148999592	GM12878	blood:	n/a	n/a
8	BCL11A	chr6:148998695-148999063	GM12878	blood:	n/a	chr6:148998821-148998830
9	BCL11A	chr6:148998625-148999098	GM12878	blood:	n/a	chr6:148998821-148998830
10	BCL3	chr6:148998705-148999050	GM12878	blood:	n/a	chr6:148998821-148998830
11	BCL3	chr6:148998624-148999584	GM12878	blood:	n/a	chr6:148998821-148998830
12	BCLAF1	chr6:148998506-148999717	GM12878	blood:	n/a	chr6:148998821-148998830
13	BCLAF1	chr6:148998640-148999602	GM12878	blood:	n/a	chr6:148998821-148998830
14	BCLAF1	chr6:148978183-148978529	GM12878	blood:	n/a	n/a
15	BHLHE40	chr6:148958789-148959098	GM12878	blood:	n/a	n/a
16	BHLHE40	chr6:148998661-148999758	GM12878	blood:	n/a	n/a
17	BRCA1	chr6:148978232-148978548	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr6:148974248-148974645	HCT-116	colon:	n/a	n/a
19	CBX3	chr6:148993175-148993361	K562	blood:	n/a	n/a
20	CBX3	chr6:148987286-148987608	K562	blood:	n/a	n/a
21	CEBPB	chr6:148978384-148978466	K562	blood:	n/a	n/a
22	CEBPB	chr6:148978237-148978635	IMR90	lung:	n/a	n/a
23	CEBPB	chr6:148978079-148978656	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr6:148964471-148964611	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr6:148967126-148967372	H1-hESC	embryonic stem cell:	n/a	chr6:148967258-148967269
26	CEBPB	chr6:148967196-148967377	Hela-S3	cervix:	n/a	chr6:148967258-148967269
27	CEBPB	chr6:148967126-148967398	IMR90	lung:	n/a	chr6:148967258-148967269
28	CEBPB	chr6:148967117-148967396	HepG2	liver:	n/a	chr6:148967258-148967269
29	CEBPB	chr6:148967154-148967375	A549	lung:	n/a	chr6:148967258-148967269
30	CEBPB	chr6:148994884-148995232	HepG2	liver:	n/a	chr6:148995046-148995057
31	CEBPB	chr6:148978333-148978554	A549	lung:	n/a	n/a
32	CEBPB	chr6:148967117-148967365	K562	blood:	n/a	chr6:148967258-148967269
33	CEBPB	chr6:148984820-148985019	A549	lung:	n/a	n/a
34	CEBPB	chr6:148974394-148974504	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr6:148994907-148995158	IMR90	lung:	n/a	chr6:148995046-148995057
36	CHD2	chr6:148978267-148978592	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr6:148998454-148999803	GM12878	blood:	n/a	n/a
38	CREB1	chr6:148998650-148999480	GM12878	blood:	n/a	n/a
39	CREB1	chr6:148978150-148978603	GM12878	blood:	n/a	n/a
40	CREB1	chr6:148978213-148978557	GM12878	blood:	n/a	n/a
41	CTCF	chr6:148994220-148994430	GM12874	blood:	n/a	n/a
42	CTCF	chr6:148991979-148992058	LNCaP	prostate:	n/a	n/a
43	CTCF	chr6:148978300-148978450	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr6:148992300-148992450	HepG2	liver:	n/a	n/a
45	CTCF	chr6:148997700-148997850	GM12870	blood:	n/a	n/a
46	CUX1	chr6:148998584-148999646	GM12878	blood:	n/a	n/a
47	E2F4	chr6:148978164-148978549	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr6:148998699-148999629	GM12878	blood:	n/a	n/a
49	EBF1	chr6:148958901-148959100	GM12878	blood:	n/a	n/a
50	EBF1	chr6:148998666-148999599	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:148954900..148955406-chr6:149091956..149092544,2	MCF-7	breast:
2	chr6:148994212..148995801-chr6:149005371..149007297,2	K562	blood:
3	chr6:148954710..148955350-chr6:149091602..149092539,3	MCF-7	breast:
4	chr6:148932241..148934336-chr6:148952419..148954338,2	K562	blood:
5	chr6:148954785..148955644-chr6:149158920..149159746,3	MCF-7	breast:
6	chr6:148954816..148955529-chr6:149401033..149401601,2	MCF-7	breast:
7	chr6:148954756..148955529-chr6:149401033..149401756,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H12D-14	chr6:148968843-148969733	NONHSAT115479

Variant related genes	Relation type
ENSG00000231368	TF binding region

Extended variants
information (count: 1628 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1628 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139177716	chr6:148954052-148954053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376674315	chr6:148954134-148954135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73789231	chr6:148954135-148954136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191023489	chr6:148954225-148954226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560205574	chr6:148954236-148954237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375526385	chr6:148954338-148954339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578031942	chr6:148954389-148954390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143087879	chr6:148954406-148954407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79287385	chr6:148954416-148954417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143681613	chr6:148954424-148954425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572257976	chr6:148954449-148954450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181453276	chr6:148954465-148954466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571359638	chr6:148954493-148954494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534045016	chr6:148954515-148954516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148084512	chr6:148954528-148954529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114734863	chr6:148954531-148954532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11966900	chr6:148954540-148954541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554100898	chr6:148954569-148954570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112197601	chr6:148954579-148954580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141793361	chr6:148954677-148954678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76372513	chr6:148954707-148954708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557994262	chr6:148954710-148954711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6570869	chr6:148954749-148954750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150577282	chr6:148954793-148954794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542099333	chr6:148954809-148954810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560166746	chr6:148954852-148954853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369943949	chr6:148954865-148954866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543420706	chr6:148954967-148954968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573589770	chr6:148954968-148954969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6570870	chr6:148954988-148954989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563108913	chr6:148955008-148955009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563084633	chr6:148955039-148955040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139582150	chr6:148955093-148955094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200840857	chr6:148955111-148955112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185757473	chr6:148955120-148955121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74400481	chr6:148955143-148955144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527758719	chr6:148955179-148955180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190410994	chr6:148955230-148955231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116489161	chr6:148955239-148955240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536298700	chr6:148955254-148955255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561986198	chr6:148955295-148955296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183027974	chr6:148955392-148955393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141710924	chr6:148955399-148955400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376138869	chr6:148955416-148955417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575551124	chr6:148955500-148955501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77980547	chr6:148955566-148955567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372768583	chr6:148955579-148955580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187746945	chr6:148955593-148955594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533853871	chr6:148955605-148955606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192304244	chr6:148955636-148955637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	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
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:148949200-148955000	Weak transcription	HSMMtube	muscle
2	chr6:148951200-148954800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:148954000-148957200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:148955000-148955800	Enhancers	HSMMtube	muscle
5	chr6:148955000-148957000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:148955000-148957400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr6:148955800-148956200	Weak transcription	HSMMtube	muscle
8	chr6:148956200-148956800	Enhancers	HSMMtube	muscle
9	chr6:148957200-148957400	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr6:148957400-148958600	Weak transcription	Primary B cells from cord blood	blood
11	chr6:148958200-148958600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:148958400-148959400	Enhancers	Colon Smooth Muscle	Colon
13	chr6:148958400-148959600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:148958400-148959600	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:148958600-148959000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:148958600-148959200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:148958600-148959400	Enhancers	Primary B cells from cord blood	blood
18	chr6:148958600-148959600	Enhancers	Dnd41	blood
19	chr6:148958600-148959800	Enhancers	GM12878-XiMat	blood
20	chr6:148959200-148959400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:148959200-148960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:148959600-148961000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:148959600-148962600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:148960800-148962000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:148962000-148966800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:148962200-148962800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:148962600-148965600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:148962800-148963400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:148964400-148964600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:148964600-148966800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:148964800-148966200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:148965200-148967400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:148965400-148965600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:148965400-148965600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:148965600-148966000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:148965600-148966200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:148965600-148966600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:148965600-148968800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:148966000-148966200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:148966000-148966400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:148966200-148966800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:148966200-148967400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:148966200-148973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:148966400-148966600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:148966600-148967400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:148966600-148967400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:148966600-148967600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:148966600-148967600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:148966600-148967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:148966600-148969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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