Variant report

Variant	esv3372556
Chromosome Location	chr6:161087762-161092360
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	chr6:161089022-161089201	HepG2	liver:	n/a	n/a
2	BRCA1	chr6:161088972-161089195	GM12878	blood:	n/a	n/a
3	BRCA1	chr6:161089015-161089024	HepG2	liver:	n/a	n/a
4	CEBPZ	chr6:161088949-161089042	HepG2	liver:	n/a	n/a
5	CHD2	chr6:161088975-161089167	HepG2	liver:	n/a	n/a
6	CTCF	chr6:161089040-161089190	HCT-116	colon:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
7	CTCF	chr6:161089010-161089259	LNCaP	prostate:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
8	CTCF	chr6:161088975-161089281	GM19239	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
9	CTCF	chr6:161088875-161089391	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
10	CTCF	chr6:161088975-161089283	GM12878	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
11	CTCF	chr6:161089120-161089270	A549	lung:	n/a	n/a
12	CTCF	chr6:161089060-161089210	GM12867	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
13	CTCF	chr6:161089060-161089210	BE2_C	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
14	CTCF	chr6:161088985-161089265	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
15	CTCF	chr6:161089715-161089757	NHEK	skin:	n/a	n/a
16	CTCF	chr6:161089020-161089170	Caco-2	colon:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
17	CTCF	chr6:161088985-161089255	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
18	CTCF	chr6:161089060-161089210	NHEK	skin:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
19	CTCF	chr6:161088936-161089274	HepG2	liver:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
20	CTCF	chr6:161088900-161089170	HEK293	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
21	CTCF	chr6:161088976-161089231	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
22	CTCF	chr6:161089080-161089230	GM12874	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
23	CTCF	chr6:161089020-161089170	GM12864	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
24	CTCF	chr6:161089036-161089210	GM20000	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
25	CTCF	chr6:161089020-161089170	GM12872	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
26	CTCF	chr6:161089040-161089190	Hela-S3	cervix:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
27	CTCF	chr6:161089040-161089190	HCFaa	heart:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
28	CTCF	chr6:161089040-161089190	GM12870	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
29	CTCF	chr6:161088970-161089235	A549	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
30	CTCF	chr6:161089689-161089809	GM19239	blood:	n/a	n/a
31	CTCF	chr6:161089005-161089266	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
32	CTCF	chr6:161089160-161089310	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr6:161089030-161089210	Lung_OC	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
34	CTCF	chr6:161089060-161089210	GM06990	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
35	CTCF	chr6:161089033-161089210	GM13976	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
36	CTCF	chr6:161089060-161089210	SK-N-SH_RA	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
37	CTCF	chr6:161089060-161089239	Fibrobl	skin:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
38	CTCF	chr6:161089080-161089230	GM12864	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
39	CTCF	chr6:161089060-161089210	HPAF	blood vessel:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
40	CTCF	chr6:161089020-161089170	RPTEC	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
41	CTCF	chr6:161089022-161089232	Medullo	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
42	CTCF	chr6:161089016-161089262	T-47D	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
43	CTCF	chr6:161089300-161089450	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr6:161088859-161089398	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
45	CTCF	chr6:161089040-161089190	Caco-2	colon:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
46	CTCF	chr6:161089100-161089250	HFF-Myc	foreskin:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
47	CTCF	chr6:161088864-161089296	HepG2	liver:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
48	CTCF	chr6:161089040-161089190	GM12864	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
49	CTCF	chr6:161089060-161089210	GM12874	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
50	CTCF	chr6:161089040-161089190	GM12872	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161088755-161088805	SAEC	small airway:	n/a
2	chr6:161088755-161088805	AG09319	gingival:	n/a
3	chr6:161088246-161088296	AG09319	gingival:	n/a
4	chr6:161088246-161088296	PrEC	prostate:	n/a
5	chr6:161088755-161088805	MCF-7	breast:	n/a
6	chr6:161088246-161088296	SK-N-SH	brain:	n/a
7	chr6:161088246-161088296	HEEpiC	esophagus:	n/a
8	chr6:161088246-161088296	SAEC	small airway:	n/a
9	chr6:161088755-161088805	IMR90	lung:	fetal
10	chr6:161088246-161088296	BE2_C	brain:	n/a
11	chr6:161088755-161088805	AoSMC	blood vessel:	n/a
12	chr6:161088755-161088805	NH-A	brain:	n/a
13	chr6:161088246-161088296	MCF10A-Er-Src	breast:	n/a
14	chr6:161088755-161088805	HMEC	breast:	n/a
15	chr6:161088246-161088296	H1-hESC	embryonic stem cell:	embryo
16	chr6:161088755-161088805	HCPEpiC	choroid plexus:	n/a
17	chr6:161088755-161088805	GM12878	blood:	n/a
18	chr6:161088246-161088296	GM19239	blood:	n/a
19	chr6:161088246-161088296	GM12891	blood:	n/a
20	chr6:161088755-161088805	ProgFib	skin:	n/a
21	chr6:161088755-161088805	Hela-S3	cervix:	n/a
22	chr6:161088755-161088805	ECC-1	luminal epithelium:	n/a
23	chr6:161088755-161088805	H1-hESC	embryonic stem cell:	embryo
24	chr6:161088246-161088296	HRPEpiC	eye:	n/a
25	chr6:161088246-161088296	HAEpiC	amniotic membrane:	n/a
26	chr6:161088246-161088296	SKMC	muscle:	n/a
27	chr6:161088755-161088805	HCF	heart:	n/a
28	chr6:161088246-161088296	ProgFib	skin:	n/a
29	chr6:161088246-161088296	NB4	blood:	n/a
30	chr6:161088755-161088805	GM12892	blood:	n/a
31	chr6:161088755-161088805	HRCEpiC	kidney:	n/a
32	chr6:161088755-161088805	AG04450	lung:	fetal
33	chr6:161088755-161088805	NHDF-neo	bronchial:	n/a
34	chr6:161088246-161088296	IMR90	lung:	fetal
35	chr6:161088755-161088805	NHBE	bronchial:	n/a
36	chr6:161088755-161088805	PFSK-1	brain:	n/a
37	chr6:161088755-161088805	Hepatocyte	liver:	n/a
38	chr6:161088755-161088805	HCT-116	colon:	n/a
39	chr6:161088246-161088296	HL-60	blood:	n/a
40	chr6:161088246-161088296	Caco-2	colon:	n/a
41	chr6:161088755-161088805	HepG2	liver:	n/a
42	chr6:161088755-161088805	HCM	heart:	n/a
43	chr6:161088246-161088296	HIPEpiC	eye:	n/a
44	chr6:161088755-161088805	HIPEpiC	eye:	n/a
45	chr6:161088755-161088805	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:161088246-161088296	HNPCEpiC	eye:	n/a
47	chr6:161088246-161088296	GM12892	blood:	n/a
48	chr6:161088246-161088296	LNCaP	prostate:	n/a
49	chr6:161088246-161088296	CMK	blood:	n/a
50	chr6:161088755-161088805	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:160939583..160942817-chr6:161087432..161090286,3	K562	blood:
2	chr6:160940535..160941592-chr6:161088101..161089900,7	K562	blood:
3	chr6:160876814..160877519-chr6:161088556..161089198,2	MCF-7	breast:
4	chr6:160941041..160942817-chr6:161087432..161089515,2	K562	blood:
5	chr6:160940670..160941542-chr6:161088487..161089076,2	MCF-7	breast:
6	chr6:160954972..160955719-chr6:161088699..161089595,2	MCF-7	breast:
7	chr6:160876729..160877411-chr6:161088842..161089583,2	K562	blood:
8	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:

Variant related genes	Relation type
LPA	TF binding region
LPA	CpG island

Extended variants
information (count: 259 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552479297	chr6:161087812-161087813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569034178	chr6:161087836-161087837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531357822	chr6:161087837-161087838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577086890	chr6:161087841-161087842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568166067	chr6:161087847-161087848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs41269133	chr6:161087863-161087864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs783148	chr6:161087869-161087870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185904768	chr6:161087908-161087909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539626336	chr6:161087970-161087971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs41269131	chr6:161088015-161088016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149570306	chr6:161088027-161088028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556840151	chr6:161088044-161088045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370286303	chr6:161088069-161088070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144246165	chr6:161088070-161088071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190367591	chr6:161088100-161088101	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371159825	chr6:161088105-161088106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111327256	chr6:161088135-161088136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182575854	chr6:161088202-161088203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573009233	chr6:161088218-161088219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187573114	chr6:161088219-161088220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564408949	chr6:161088247-161088248	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs140783135	chr6:161088250-161088251	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs562208600	chr6:161088252-161088253	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs375400267	chr6:161088261-161088262	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs545651209	chr6:161088264-161088265	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs562811805	chr6:161088266-161088267	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs190484092	chr6:161088284-161088285	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs548500262	chr6:161088325-161088326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144731944	chr6:161088330-161088331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527264284	chr6:161088348-161088349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547546943	chr6:161088358-161088359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17557261	chr6:161088399-161088400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540041615	chr6:161088400-161088401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147603287	chr6:161088411-161088412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115227831	chr6:161088417-161088418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113585105	chr6:161088422-161088423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183904052	chr6:161088539-161088540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189242308	chr6:161088545-161088546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561443884	chr6:161088548-161088549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555629057	chr6:161088617-161088618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76214705	chr6:161088643-161088644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534675790	chr6:161088684-161088685	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs142210658	chr6:161088707-161088708	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs578008201	chr6:161088727-161088728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544578826	chr6:161088756-161088757	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs545983399	chr6:161088836-161088837	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs562589559	chr6:161088858-161088859	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs783149	chr6:161088918-161088919	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75274517	chr6:161088956-161088957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573301366	chr6:161088982-161088983	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161084200-161089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:161087200-161088600	Weak transcription	Liver	Liver
3	chr6:161087400-161089600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161087600-161100200	Weak transcription	Right Atrium	heart
5	chr6:161088600-161089400	Enhancers	Liver	Liver
6	chr6:161088800-161089000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr6:161088800-161089000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr6:161088800-161089000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:161089400-161089800	Weak transcription	Liver	Liver
10	chr6:161089600-161090000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr6:161089600-161090200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
12	chr6:161089800-161090200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:161089800-161090200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:161089800-161090200	Active TSS	Fetal Kidney	kidney
15	chr6:161089800-161091000	Strong transcription	Liver	Liver
16	chr6:161090200-161090800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:161090800-161091400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:161091000-161098200	Weak transcription	Liver	Liver
19	chr6:161091400-161092200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr6:161092200-161092600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links