Variant report

Variant	nsv520571
Chromosome Location	chr6:160700769-160704943
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	CTCF	chr6:160702051-160702153	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr6:160700660-160700810	NHEK	skin:	n/a	n/a
3	CUX1	chr6:160703536-160703812	K562	blood:	n/a	n/a
4	FOS	chr6:160700881-160701234	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:160700947-160701147	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:160700937-160701186	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:160700857-160701219	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr6:160700869-160701221	A549	lung:	n/a	n/a
9	GATA3	chr6:160703832-160704147	SH-SY5Y	brain:	n/a	n/a
10	SETDB1	chr6:160700898-160701441	U2OS	brain:	n/a	n/a
11	STAT3	chr6:160700920-160701008	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr6:160702330-160702629	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr6:160700952-160700966	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLC22A2	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2634658	chr6:160700769-160700770	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141901884	chr6:160700784-160700785	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557255963	chr6:160700820-160700821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573660091	chr6:160700829-160700830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147035786	chr6:160700835-160700836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561716233	chr6:160700838-160700839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2634659	chr6:160700858-160700859	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572986412	chr6:160700866-160700867	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369000372	chr6:160700872-160700873	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545572543	chr6:160700898-160700899	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs604258	chr6:160700899-160700900	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370917970	chr6:160701077-160701078	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544564078	chr6:160701164-160701165	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2774225	chr6:160701181-160701182	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547433660	chr6:160701187-160701188	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532683981	chr6:160701195-160701196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs56914471	chr6:160701208-160701209	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs114847731	chr6:160701214-160701215	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552327295	chr6:160701253-160701254	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560166440	chr6:160701300-160701301	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73784343	chr6:160701335-160701336	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs500199	chr6:160701403-160701404	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571336310	chr6:160701411-160701412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs505111	chr6:160701424-160701425	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558332887	chr6:160702063-160702064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs568939912	chr6:160702096-160702097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs538005655	chr6:160702101-160702102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554736108	chr6:160702107-160702108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574731528	chr6:160702108-160702109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540509453	chr6:160702115-160702116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148332261	chr6:160702119-160702120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183064075	chr6:160702150-160702151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2484243	chr6:160702332-160702333	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577103153	chr6:160702352-160702353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146171483	chr6:160702361-160702362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2250219	chr6:160702422-160702423	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2774222	chr6:160702476-160702477	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35699579	chr6:160702501-160702502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs397817157	chr6:160702502-160702503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112036282	chr6:160702508-160702509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs577476452	chr6:160702534-160702535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs545292	chr6:160702545-160702546	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556517503	chr6:160702547-160702548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs531056128	chr6:160702555-160702556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562521799	chr6:160702557-160702558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113992223	chr6:160702567-160702568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs540846320	chr6:160702574-160702575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571012423	chr6:160703635-160703636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2774219	chr6:160703639-160703640	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160699800-160701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:160700200-160700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:160700200-160700800	Enhancers	HMEC	breast
4	chr6:160700400-160700800	Flanking Active TSS	NHEK	skin
5	chr6:160700800-160701400	Enhancers	NHEK	skin

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