Variant report

Variant	esv3337133
Chromosome Location	chr6:150652759-150655857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:150654386-150654755	K562	blood:	n/a	n/a
2	BCL3	chr6:150654358-150654690	GM12878	blood:	n/a	n/a
3	BCL3	chr6:150653755-150654205	GM12878	blood:	n/a	n/a
4	BCL3	chr6:150654416-150654785	GM12878	blood:	n/a	n/a
5	BCL3	chr6:150653722-150654257	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:150653831-150654810	K562	blood:	n/a	n/a
7	CEBPD	chr6:150654308-150654856	K562	blood:	n/a	n/a
8	CTCF	chr6:150654823-150654998	NHEK	skin:	n/a	n/a
9	CTCF	chr6:150655780-150655930	GM12869	blood:	n/a	n/a
10	CTCF	chr6:150654840-150654990	K562	blood:	n/a	n/a
11	CTCF	chr6:150654632-150655187	HCT-116	colon:	n/a	n/a
12	CTCF	chr6:150654839-150655005	K562	blood:	n/a	n/a
13	CTCF	chr6:150654840-150654990	HMEC	breast:	n/a	n/a
14	CTCF	chr6:150654840-150654990	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr6:150654734-150655096	K562	blood:	n/a	n/a
16	CTCF	chr6:150655829-150656837	HCT-116	colon:	n/a	n/a
17	CTCF	chr6:150654866-150654969	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:150654860-150655010	SAEC	small airway:	n/a	n/a
19	CTCF	chr6:150654840-150654990	SAEC	small airway:	n/a	n/a
20	CTCF	chr6:150654860-150655010	NHEK	skin:	n/a	n/a
21	CTCF	chr6:150654820-150654970	HMEC	breast:	n/a	n/a
22	CTCF	chr6:150654908-150654945	MCF-7	breast:	n/a	n/a
23	CUX1	chr6:150654291-150654850	K562	blood:	n/a	n/a
24	EP300	chr6:150654501-150654749	K562	blood:	n/a	n/a
25	JUN	chr6:150654559-150654799	K562	blood:	n/a	n/a
26	JUN	chr6:150654083-150654208	K562	blood:	n/a	n/a
27	JUND	chr6:150654434-150654921	K562	blood:	n/a	n/a
28	MAFK	chr6:150654554-150654749	K562	blood:	n/a	n/a
29	MAZ	chr6:150654405-150655036	K562	blood:	n/a	n/a
30	MYC	chr6:150654309-150654387	GM12878	blood:	n/a	n/a
31	MYC	chr6:150654418-150654892	K562	blood:	n/a	n/a
32	MYC	chr6:150654508-150654866	K562	blood:	n/a	n/a
33	NFATC1	chr6:150653686-150654273	GM12878	blood:	n/a	n/a
34	NFATC1	chr6:150654324-150654796	GM12878	blood:	n/a	n/a
35	NR2C2	chr6:150653932-150654661	GM12878	blood:	n/a	n/a
36	PBX3	chr6:150654505-150654668	GM12878	blood:	n/a	n/a
37	RAD21	chr6:150654840-150654980	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr6:150654771-150655018	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr6:150654437-150655184	HCT-116	colon:	n/a	n/a
40	RAD21	chr6:150654634-150655171	ECC-1	luminal epithelium:	n/a	n/a
41	RAD21	chr6:150654580-150655192	HCT-116	colon:	n/a	n/a
42	RCOR1	chr6:150654399-150654885	K562	blood:	n/a	n/a
43	SMC3	chr6:150654861-150654944	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr6:150654648-150654974	K562	blood:	n/a	n/a
45	STAT5A	chr6:150653710-150654078	GM12878	blood:	n/a	n/a
46	SUZ12	chr6:150654145-150654583	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAL1	chr6:150654491-150654731	K562	blood:	n/a	n/a
48	TBL1XR1	chr6:150654486-150654823	K562	blood:	n/a	n/a
49	TCF12	chr6:150653828-150654283	HepG2	liver:	n/a	n/a
50	TCF3	chr6:150653745-150654131	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150652538..150654492-chr6:150655790..150657493,2	K562	blood:
2	chr6:150400447..150403376-chr6:150651283..150654200,2	K562	blood:
3	chr6:150652538..150654492-chr6:150655790..150657493,2	K562	blood:
4	chr6:150652940..150655657-chr6:150657014..150660003,2	MCF-7	breast:
5	chr6:150401452..150402235-chr6:150654477..150655029,2	MCF-7	breast:
6	chr6:150401548..150402447-chr6:150655810..150657501,10	K562	blood:
7	chr6:150524597..150525171-chr6:150654629..150655279,2	MCF-7	breast:
8	chr6:150401003..150402693-chr6:150655609..150656984,12	MCF-7	breast:
9	chr6:150404252..150405212-chr6:150654023..150654852,2	MCF-7	breast:
10	chr6:150401704..150402247-chr6:150654478..150655258,3	MCF-7	breast:
11	chr6:150644840..150646705-chr6:150652961..150654511,2	K562	blood:

No data

Variant related genes	Relation type
RNU4-7P	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564074919	chr6:150652813-150652814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533025177	chr6:150652824-150652825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546313646	chr6:150652847-150652848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560060159	chr6:150652850-150652851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529153775	chr6:150652860-150652861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12055585	chr6:150652880-150652881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs188264694	chr6:150652898-150652899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570897778	chr6:150652933-150652934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149905245	chr6:150652975-150652976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1112870	chr6:150653049-150653050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570888669	chr6:150653114-150653115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147600440	chr6:150653119-150653120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553111428	chr6:150653184-150653185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566828298	chr6:150653188-150653189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181392010	chr6:150653194-150653195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556138968	chr6:150653210-150653211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142159695	chr6:150653216-150653217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34184819	chr6:150653219-150653220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558316802	chr6:150653227-150653228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536062546	chr6:150653328-150653329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377393188	chr6:150653335-150653336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551879267	chr6:150653362-150653363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555614871	chr6:150653402-150653403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184100505	chr6:150653416-150653417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189172836	chr6:150653486-150653487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543324758	chr6:150653509-150653510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72997467	chr6:150653555-150653556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542212204	chr6:150653670-150653671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562470204	chr6:150653685-150653686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138906574	chr6:150653709-150653710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375630952	chr6:150653840-150653841	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551300486	chr6:150653847-150653848	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571389110	chr6:150653849-150653850	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533267641	chr6:150653855-150653856	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148908526	chr6:150653856-150653857	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535994536	chr6:150653866-150653867	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535900890	chr6:150653886-150653887	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181619615	chr6:150653897-150653898	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116012893	chr6:150653898-150653899	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143634294	chr6:150653899-150653900	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148087768	chr6:150653905-150653906	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578093292	chr6:150653909-150653910	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141865107	chr6:150653919-150653920	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553497124	chr6:150653920-150653921	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560206073	chr6:150653925-150653926	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573378440	chr6:150653937-150653938	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542246817	chr6:150653972-150653973	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529048757	chr6:150654010-150654011	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9397877	chr6:150654027-150654028	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545239839	chr6:150654070-150654071	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Developmental delay	21147756	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150645600-150663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150649000-150656600	Weak transcription	Right Atrium	heart
3	chr6:150649600-150653800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:150650200-150653800	Weak transcription	K562	blood
5	chr6:150651200-150654000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:150653800-150654000	Enhancers	Esophagus	oesophagus
7	chr6:150653800-150654200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:150653800-150654800	Enhancers	Pancreas	Pancrea
9	chr6:150653800-150655200	Enhancers	K562	blood
10	chr6:150654000-150654600	Weak transcription	Esophagus	oesophagus
11	chr6:150654200-150654400	Enhancers	HMEC	breast
12	chr6:150654200-150657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150654400-150654600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:150654400-150654600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:150654400-150656000	Weak transcription	HMEC	breast
16	chr6:150654600-150654800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:150654600-150654800	Enhancers	Esophagus	oesophagus
18	chr6:150654600-150655000	Enhancers	Stomach Mucosa	stomach
19	chr6:150654800-150656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:150655000-150657400	Weak transcription	Stomach Mucosa	stomach
21	chr6:150655200-150655600	Weak transcription	K562	blood
22	chr6:150655600-150657800	Enhancers	K562	blood

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