Variant report

Variant	nsv600461
Chromosome Location	chr5:178262331-178265479
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	MAFF	chr5:178263084-178263158	K562	blood:	n/a	n/a
2	POLR2A	chr5:178262695-178262797	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178262543..178264784-chr5:178273613..178275521,2	K562	blood:
2	chr5:178264186..178266313-chr5:178270488..178273068,2	MCF-7	breast:
3	chr5:178050940..178053910-chr5:178263858..178266243,2	MCF-7	breast:
4	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253725	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529118473	chr5:178262700-178262701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114844480	chr5:178262739-178262740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565288830	chr5:178262740-178262741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143933898	chr5:178262743-178262744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562833263	chr5:178262786-178262787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569630053	chr5:178262787-178262788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147243907	chr5:178262789-178262790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs10903231	chr5:178263100-178263101	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6875423	chr5:178263121-178263122	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530496176	chr5:178263122-178263123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10903232	chr5:178263128-178263129	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10903233	chr5:178263152-178263153	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148591912	chr5:178263208-178263209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531928721	chr5:178263226-178263227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11249589	chr5:178263241-178263242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540158948	chr5:178263256-178263257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112218308	chr5:178263263-178263264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11249590	chr5:178263297-178263298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539368974	chr5:178263309-178263310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11249591	chr5:178263347-178263348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555806574	chr5:178263352-178263353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543504736	chr5:178263373-178263374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6877165	chr5:178263416-178263417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs181232487	chr5:178263475-178263476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540807522	chr5:178263482-178263483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12152723	chr5:178263502-178263503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559158472	chr5:178263511-178263512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577918715	chr5:178263519-178263520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533046449	chr5:178263550-178263551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10059914	chr5:178263605-178263606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563094278	chr5:178263612-178263613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142912587	chr5:178263642-178263643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12153004	chr5:178263653-178263654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186510334	chr5:178263661-178263662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528222026	chr5:178263685-178263686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199736113	chr5:178263695-178263696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200713806	chr5:178263700-178263701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12153245	chr5:178263702-178263703	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566291245	chr5:178263706-178263707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140087532	chr5:178263711-178263712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201915216	chr5:178263712-178263713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35411234	chr5:178263713-178263714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200542312	chr5:178263714-178263715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200563350	chr5:178263715-178263716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10059982	chr5:178263716-178263717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559191281	chr5:178263745-178263746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569910431	chr5:178263755-178263756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369613709	chr5:178263757-178263758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34751264	chr5:178263769-178263770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548717549	chr5:178263770-178263771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178263200-178264800	Enhancers	Placenta	Placenta
2	chr5:178263600-178286400	Weak transcription	Right Atrium	heart
3	chr5:178264800-178265200	Weak transcription	Placenta	Placenta
4	chr5:178265200-178266400	Enhancers	Placenta	Placenta

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