Variant report

Variant	nsv462086
Chromosome Location	chr5:29789231-29794237
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	chr5:29791008-29791041	MCF-7	breast:	n/a	n/a
2	MYC	chr5:29792985-29793272	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:29793634-29793978	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:29790112-29790312	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr5:29793629-29794224	MCF10A-Er-Src	breast:	n/a	chr5:29794159-29794167
6	STAT3	chr5:29791639-29791701	MCF10A-Er-Src	breast:	n/a	n/a
7	TBL1XR1	chr5:29792793-29792938	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:
2	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:
3	chr5:29785498..29787507-chr5:29789131..29791399,2	MCF-7	breast:
4	chr5:29784571..29787438-chr5:29789979..29792969,3	K562	blood:

Variant related genes	Relation type
ENSG00000250984	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2925527	chr5:29791659-29791660	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148383666	chr5:29791664-29791665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141567550	chr5:29791670-29791671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566726906	chr5:29791697-29791698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373968073	chr5:29792800-29792801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2925526	chr5:29792823-29792824	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62348729	chr5:29792842-29792843	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73076353	chr5:29792854-29792855	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2061238	chr5:29792868-29792869	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573603536	chr5:29792870-29792871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs74687079	chr5:29792874-29792875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377391121	chr5:29792888-29792889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs34726443	chr5:29792915-29792916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377657400	chr5:29792920-29792921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370373922	chr5:29792922-29792923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs72743255	chr5:29793004-29793005	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531903694	chr5:29793038-29793039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs575586299	chr5:29793076-29793077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550422002	chr5:29793083-29793084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550025854	chr5:29793096-29793097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112830665	chr5:29793110-29793111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568891523	chr5:29793133-29793134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544662592	chr5:29793141-29793142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532632529	chr5:29793152-29793153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs72743256	chr5:29793173-29793174	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566071165	chr5:29793174-29793175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377134574	chr5:29793217-29793218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370741340	chr5:29793223-29793224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370351683	chr5:29793238-29793239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536561496	chr5:29793242-29793243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548418553	chr5:29793267-29793268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544025349	chr5:29793634-29793635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2124717	chr5:29793644-29793645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565337072	chr5:29793667-29793668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73076357	chr5:29793720-29793721	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184327539	chr5:29793724-29793725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201073182	chr5:29793737-29793738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540968904	chr5:29793745-29793746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs559788311	chr5:29793746-29793747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2061237	chr5:29793788-29793789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs148493291	chr5:29793796-29793797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs16899404	chr5:29793800-29793801	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142690863	chr5:29793806-29793807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552389186	chr5:29793827-29793828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs10520950	chr5:29793830-29793831	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35173021	chr5:29793851-29793852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571019204	chr5:29793888-29793889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147629208	chr5:29793943-29793944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371727593	chr5:29793955-29793956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73076361	chr5:29793969-29793970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29794200-29794600	Enhancers	Fetal Intestine Small	intestine
2	chr5:29794200-29795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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