Variant report

Variant	esv3361979
Chromosome Location	chr6:146830308-146861261
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	chr6:146846316-146846589	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:146839356-146839397	IMR90	lung:	n/a	chr6:146839381-146839392 chr6:146839383-146839394
3	CEBPB	chr6:146857421-146857707	HepG2	liver:	n/a	chr6:146857553-146857564
4	CEBPB	chr6:146839331-146839531	H1-hESC	embryonic stem cell:	n/a	chr6:146839381-146839392 chr6:146839383-146839394
5	CEBPB	chr6:146839321-146839475	HepG2	liver:	n/a	chr6:146839381-146839392 chr6:146839383-146839394
6	CEBPB	chr6:146857441-146857684	MCF-7	breast:	n/a	chr6:146857553-146857564
7	CEBPB	chr6:146839277-146839516	K562	blood:	n/a	chr6:146839381-146839392 chr6:146839383-146839394
8	CTCF	chr6:146847480-146847630	HMF	breast:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
9	CTCF	chr6:146847622-146847629	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr6:146847500-146847650	BE2_C	brain:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
11	CTCF	chr6:146847320-146847470	AG04450	lung:	n/a	n/a
12	CTCF	chr6:146847505-146847534	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr6:146847440-146847590	BJ	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
14	CTCF	chr6:146847440-146847590	Caco-2	colon:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
15	CTCF	chr6:146847440-146847590	HMEC	breast:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
16	CTCF	chr6:146847460-146847610	K562	blood:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
17	CTCF	chr6:146847440-146847590	BE2_C	brain:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
18	CTCF	chr6:146847372-146847680	K562	blood:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
19	CTCF	chr6:146847460-146847610	AG04449	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
20	CTCF	chr6:146847580-146847730	HAc	cerebellar:	n/a	n/a
21	CTCF	chr6:146847420-146847570	HBMEC	blood vessel:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
22	CTCF	chr6:146847493-146847529	A549	lung:	n/a	n/a
23	CTCF	chr6:146847380-146847530	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr6:146847460-146847610	HMEC	breast:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
25	CTCF	chr6:146847440-146847590	HFF	foreskin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
26	CTCF	chr6:146847460-146847610	HPAF	blood vessel:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
27	CTCF	chr6:146847405-146847659	H1-hESC	embryonic stem cell:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
28	CTCF	chr6:146847440-146847590	AG10803	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
29	CTCF	chr6:146848007-146848035	GM13976	blood:	n/a	n/a
30	CTCF	chr6:146847412-146847654	LNCaP	prostate:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
31	CTCF	chr6:146847500-146847650	Caco-2	colon:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
32	CTCF	chr6:146847380-146847530	HAc	cerebellar:	n/a	n/a
33	CTCF	chr6:146847288-146847706	SK-N-SH	brain:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
34	CTCF	chr6:146847420-146847570	AG09309	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
35	CTCF	chr6:146847369-146847661	IMR90	lung:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
36	CTCF	chr6:146847360-146847510	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr6:146847436-146847612	ProgFib	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
38	CTCF	chr6:146847420-146847570	BJ	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
39	CTCF	chr6:146847387-146847717	MCF-7	breast:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
40	CTCF	chr6:146847509-146847620	Pancreas_OC	pancreas:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
41	CTCF	chr6:146847400-146847550	HPF	lung:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
42	CTCF	chr6:146847444-146847574	SK-N-SH_RA	brain:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
43	CTCF	chr6:146847440-146847590	WERI-Rb-1	eye:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
44	CTCF	chr6:146847440-146847590	AG04449	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
45	CTCF	chr6:146847460-146847610	AG10803	skin:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
46	CTCF	chr6:146847460-146847610	MCF-7	breast:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
47	CTCF	chr6:146847540-146847690	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr6:146847453-146847596	HepG2	liver:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
49	CTCF	chr6:146847420-146847570	HRPEpiC	eye:	n/a	chr6:146847514-146847535 chr6:146847519-146847537
50	CTCF	chr6:146847460-146847610	HBMEC	blood vessel:	n/a	chr6:146847514-146847535 chr6:146847519-146847537

No.	Distal block	Cell Line	Cell type
1	chr6:146850805..146853241-chr6:146861290..146863971,3	K562	blood:
2	chr6:146858409..146859926-chr6:146865334..146867275,2	K562	blood:
3	chr6:146860145..146862906-chr6:146863356..146865152,2	MCF-7	breast:
4	chr6:146835492..146838517-chr6:146844424..146848380,3	K562	blood:
5	chr6:146363337..146364087-chr6:146847332..146848135,2	MCF-7	breast:
6	chr6:146371406..146371941-chr6:146846755..146847588,2	MCF-7	breast:
7	chr6:146835492..146838517-chr6:146844424..146848380,3	K562	blood:
8	chr6:146362143..146363255-chr6:146846950..146848008,5	MCF-7	breast:
9	chr6:146836468..146839351-chr6:146867182..146869827,2	K562	blood:
10	chr6:146860683..146863142-chr6:146863804..146865664,2	MCF-7	breast:
11	chr6:146856464..146858525-chr6:146864399..146866525,2	MCF-7	breast:
12	chr6:146858530..146860346-chr6:146864011..146865788,2	MCF-7	breast:

Variant related genes	Relation type
RAB32	TF binding region
ENSG00000118508	chromatin interactions

Extended variants
information (count: 457 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143003684	chr6:146830408-146830409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532166668	chr6:146830478-146830479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191643903	chr6:146830483-146830484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377709056	chr6:146830562-146830563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146077790	chr6:146830644-146830645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34991683	chr6:146830649-146830650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138870575	chr6:146830688-146830689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548326214	chr6:146830717-146830718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182714647	chr6:146830723-146830724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530953007	chr6:146830732-146830733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551042409	chr6:146830792-146830793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570920239	chr6:146830799-146830800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572851588	chr6:146830809-146830810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540042828	chr6:146830826-146830827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113101425	chr6:146830827-146830828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567189915	chr6:146830860-146830861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185672520	chr6:146830974-146830975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542058927	chr6:146830977-146830978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141918642	chr6:146831011-146831012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150829655	chr6:146831016-146831017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536788019	chr6:146831024-146831025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190026883	chr6:146831025-146831026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182186741	chr6:146831033-146831034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189190807	chr6:146831081-146831082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531125720	chr6:146831101-146831102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559105746	chr6:146831109-146831110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572826512	chr6:146831175-146831176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139267551	chr6:146831180-146831181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193114190	chr6:146831185-146831186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530941368	chr6:146831193-146831194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550655737	chr6:146831223-146831224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149952879	chr6:146831248-146831249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533433921	chr6:146831271-146831272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183930379	chr6:146831272-146831273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567048696	chr6:146831299-146831300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144189488	chr6:146831305-146831306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544486035	chr6:146831314-146831315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76945792	chr6:146831454-146831455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549644173	chr6:146831455-146831456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77193912	chr6:146831456-146831457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569410041	chr6:146831458-146831459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188381771	chr6:146831493-146831494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556503390	chr6:146831515-146831516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377133651	chr6:146831556-146831557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576563454	chr6:146831557-146831558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80090218	chr6:146831568-146831569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532671308	chr6:146831578-146831579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193027182	chr6:146831617-146831618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566838778	chr6:146831630-146831631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144417408	chr6:146831681-146831682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146828600-146837800	Weak transcription	Fetal Heart	heart
2	chr6:146837600-146838600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:146837800-146838800	Enhancers	Fetal Heart	heart
4	chr6:146849800-146850200	Enhancers	Fetal Thymus	thymus
5	chr6:146860600-146861000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:146861000-146861600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:146861000-146861600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:146861000-146864400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:146861200-146861600	Enhancers	Primary monocytes fromperipheralblood	blood

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