Variant report

Variant	esv3433335
Chromosome Location	chr6:161088362-161091560
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	chr6:161088976-161089294	GM19238	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
7	CTCF	chr6:161088980-161089288	GM12891	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
8	CTCF	chr6:161088900-161089170	HEK293	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
9	CTCF	chr6:161088809-161089479	A549	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
10	CTCF	chr6:161088800-161088950	GM12870	blood:	n/a	n/a
11	CTCF	chr6:161089040-161089190	A549	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
12	CTCF	chr6:161089060-161089210	HBMEC	blood vessel:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
13	CTCF	chr6:161089040-161089190	GM12875	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
14	CTCF	chr6:161089005-161089266	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
15	CTCF	chr6:161089040-161089190	HCFaa	heart:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
16	CTCF	chr6:161089023-161089229	Pancreas_OC	pancreas:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
17	CTCF	chr6:161088958-161089286	GM12892	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
18	CTCF	chr6:161089020-161089170	GM12864	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
19	CTCF	chr6:161089030-161089210	Lung_OC	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
20	CTCF	chr6:161089047-161089178	SK-N-SH_RA	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
21	CTCF	chr6:161088899-161089292	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
22	CTCF	chr6:161089040-161089190	GM12870	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
23	CTCF	chr6:161089080-161089230	RPTEC	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
24	CTCF	chr6:161089060-161089210	HRE	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
25	CTCF	chr6:161089040-161089190	BE2_C	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
26	CTCF	chr6:161088951-161089267	LNCaP	prostate:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
27	CTCF	chr6:161089060-161089210	GM12865	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
28	CTCF	chr6:161089040-161089190	Hela-S3	cervix:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
29	CTCF	chr6:161089060-161089210	AG09319	gingival:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
30	CTCF	chr6:161088974-161089263	NHEK	skin:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
31	CTCF	chr6:161088970-161089235	A549	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
32	CTCF	chr6:161089040-161089190	SAEC	small airway:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
33	CTCF	chr6:161089060-161089210	GM12869	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
34	CTCF	chr6:161088929-161089334	H1-hESC	embryonic stem cell:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
35	CTCF	chr6:161089060-161089210	HPAF	blood vessel:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
36	CTCF	chr6:161088875-161089391	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
37	CTCF	chr6:161089000-161089277	GM13977	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
38	CTCF	chr6:161088816-161089346	HCT-116	colon:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
39	CTCF	chr6:161089020-161089170	GM12872	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
40	CTCF	chr6:161088953-161089232	ECC-1	luminal epithelium:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
41	CTCF	chr6:161089000-161089150	AG09309	skin:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
42	CTCF	chr6:161088985-161089255	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
43	CTCF	chr6:161089004-161089244	Hela-S3	cervix:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
44	CTCF	chr6:161089040-161089190	HepG2	liver:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
45	CTCF	chr6:161089080-161089230	GM12868	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
46	CTCF	chr6:161088660-161088810	GM12872	blood:	n/a	n/a
47	CTCF	chr6:161089436-161089474	LNCaP	prostate:	n/a	n/a
48	CTCF	chr6:161089060-161089210	GM12875	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
49	CTCF	chr6:161089020-161089170	HMF	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
50	CTCF	chr6:161089300-161089450	HBMEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161088755-161088805	NH-A	brain:	n/a
2	chr6:161088755-161088805	ProgFib	skin:	n/a
3	chr6:161088755-161088805	K562	blood:	n/a
4	chr6:161088755-161088805	Hela-S3	cervix:	n/a
5	chr6:161088755-161088805	AG09319	gingival:	n/a
6	chr6:161088755-161088805	HCT-116	colon:	n/a
7	chr6:161088755-161088805	H1-hESC	embryonic stem cell:	embryo
8	chr6:161088755-161088805	SK-N-SH	brain:	n/a
9	chr6:161088755-161088805	IMR90	lung:	fetal
10	chr6:161088755-161088805	BJ	skin:	n/a
11	chr6:161088755-161088805	SK-N-SH_RA	brain:	n/a
12	chr6:161088755-161088805	Jurkat	blood:	n/a
13	chr6:161088755-161088805	AG04450	lung:	fetal
14	chr6:161088755-161088805	HepG2	liver:	n/a
15	chr6:161088755-161088805	HCPEpiC	choroid plexus:	n/a
16	chr6:161088755-161088805	Hepatocyte	liver:	n/a
17	chr6:161088755-161088805	HRCEpiC	kidney:	n/a
18	chr6:161088755-161088805	T-47D	breast:	n/a
19	chr6:161088755-161088805	RPTEC	kidney:	n/a
20	chr6:161088755-161088805	LNCaP	prostate:	n/a
21	chr6:161088755-161088805	AG04449	skin:	fetal
22	chr6:161088755-161088805	PrEC	prostate:	n/a
23	chr6:161088755-161088805	GM12892	blood:	n/a
24	chr6:161088755-161088805	CMK	blood:	n/a
25	chr6:161088755-161088805	AG10803	skin:	n/a
26	chr6:161088755-161088805	MCF-7	breast:	n/a
27	chr6:161088755-161088805	GM12891	blood:	n/a
28	chr6:161088755-161088805	HIPEpiC	eye:	n/a
29	chr6:161088755-161088805	HCF	heart:	n/a
30	chr6:161088755-161088805	HMEC	breast:	n/a
31	chr6:161088755-161088805	SKMC	muscle:	n/a
32	chr6:161088755-161088805	U87	brain:	n/a
33	chr6:161088755-161088805	Caco-2	colon:	n/a
34	chr6:161088755-161088805	AG09309	skin:	n/a
35	chr6:161088755-161088805	ovcar-3	ovarian:	n/a
36	chr6:161088755-161088805	HL-60	blood:	n/a
37	chr6:161088755-161088805	PFSK-1	brain:	n/a
38	chr6:161088755-161088805	BE2_C	brain:	n/a
39	chr6:161088755-161088805	HCM	heart:	n/a
40	chr6:161088755-161088805	SAEC	small airway:	n/a
41	chr6:161088755-161088805	MCF10A-Er-Src	breast:	n/a
42	chr6:161088755-161088805	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:161088755-161088805	NB4	blood:	n/a
44	chr6:161088755-161088805	NHDF-neo	bronchial:	n/a
45	chr6:161088755-161088805	HRE	kidney:	n/a
46	chr6:161088755-161088805	GM06990	blood:	n/a
47	chr6:161088755-161088805	SK-N-MC	brain:	n/a
48	chr6:161088755-161088805	ECC-1	luminal epithelium:	n/a
49	chr6:161088755-161088805	GM19239	blood:	n/a
50	chr6:161088755-161088805	HNPCEpiC	eye:	n/a

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

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

Extended variants
information (count: 207 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17557261	chr6:161088399-161088400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540041615	chr6:161088400-161088401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147603287	chr6:161088411-161088412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115227831	chr6:161088417-161088418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113585105	chr6:161088422-161088423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183904052	chr6:161088539-161088540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189242308	chr6:161088545-161088546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561443884	chr6:161088548-161088549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555629057	chr6:161088617-161088618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76214705	chr6:161088643-161088644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534675790	chr6:161088684-161088685	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142210658	chr6:161088707-161088708	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs578008201	chr6:161088727-161088728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544578826	chr6:161088756-161088757	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs545983399	chr6:161088836-161088837	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562589559	chr6:161088858-161088859	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	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
18	rs75274517	chr6:161088956-161088957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573301366	chr6:161088982-161088983	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114064806	chr6:161089018-161089019	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs546821711	chr6:161089024-161089025	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs527308229	chr6:161089054-161089055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs193080275	chr6:161089077-161089078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184616879	chr6:161089108-161089109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564219274	chr6:161089129-161089130	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532840008	chr6:161089160-161089161	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186579892	chr6:161089228-161089229	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569952651	chr6:161089236-161089237	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113708485	chr6:161089237-161089238	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535636451	chr6:161089284-161089285	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs56393506	chr6:161089307-161089308	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566004217	chr6:161089329-161089330	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191761201	chr6:161089340-161089341	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs115924742	chr6:161089393-161089394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs548853544	chr6:161089394-161089395	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs151228674	chr6:161089444-161089445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs117830977	chr6:161089465-161089466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576334565	chr6:161089474-161089475	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116252530	chr6:161089508-161089509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561982209	chr6:161089526-161089527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572332321	chr6:161089535-161089536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541023010	chr6:161089552-161089553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372391993	chr6:161089573-161089574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563970515	chr6:161089576-161089577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377558433	chr6:161089578-161089579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532930193	chr6:161089621-161089622	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140403723	chr6:161089644-161089645	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs74658762	chr6:161089710-161089711	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529466025	chr6:161089711-161089712	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374625227	chr6:161089742-161089743	ZNF genes & repeats Weak transcription	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:19 , 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

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