Variant report

Variant	nsv823359
Chromosome Location	chr5:179078748-179080539
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	chr5:179079568-179079625	LNCaP	prostate:	n/a	n/a
2	CTCF	chr5:179080382-179080430	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL2	chr5:179079667-179079921	HepG2	liver:	n/a	chr5:179079860-179079871 chr5:179079861-179079869
4	POLR2A	chr5:179079566-179079754	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr5:179079740-179079842	HepG2	liver:	n/a	n/a
6	SPI1	chr5:179080220-179080434	K562	blood:	n/a	chr5:179080336-179080349
7	SPI1	chr5:179080244-179080454	GM12891	blood:	n/a	chr5:179080336-179080349
8	SPI1	chr5:179080206-179080416	GM12878	blood:	n/a	chr5:179080336-179080349
9	SPI1	chr5:179080218-179080439	K562	blood:	n/a	chr5:179080336-179080349
10	SPI1	chr5:179080236-179080549	HL-60	blood:	n/a	chr5:179080336-179080349

No.	Distal block	Cell Line	Cell type
1	chr5:179048537..179052008-chr5:179078753..179080980,4	K562	blood:
2	chr5:179049252..179052008-chr5:179078855..179080395,2	K562	blood:
3	chr5:179065572..179067135-chr5:179078949..179080962,2	K562	blood:
4	chr5:179049252..179051807-chr5:179078099..179079783,3	MCF-7	breast:
5	chr5:179050028..179052097-chr5:179080349..179082018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250999	TF binding region
ENSG00000169045	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201006206	chr5:179078763-179078764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575110019	chr5:179078779-179078780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530635958	chr5:179078795-179078796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554313225	chr5:179078797-179078798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572566615	chr5:179078817-179078818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546276352	chr5:179078851-179078852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564572212	chr5:179078857-179078858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111548602	chr5:179078861-179078862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186964459	chr5:179078871-179078872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543875469	chr5:179078873-179078874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192676689	chr5:179078879-179078880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567530098	chr5:179078891-179078892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529160497	chr5:179078892-179078893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200547638	chr5:179078931-179078932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6882398	chr5:179078940-179078941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532963395	chr5:179078960-179078961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551059641	chr5:179078989-179078990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200887720	chr5:179078992-179078993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569452628	chr5:179078998-179078999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536634215	chr5:179079039-179079040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548989738	chr5:179079043-179079044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111466397	chr5:179079061-179079062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567170859	chr5:179079089-179079090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113370076	chr5:179079104-179079105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367677055	chr5:179079142-179079143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371732819	chr5:179079157-179079158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540082211	chr5:179079186-179079187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558270476	chr5:179079205-179079206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576641830	chr5:179079242-179079243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185581238	chr5:179079250-179079251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200409714	chr5:179079273-179079274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62405731	chr5:179079288-179079289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199867011	chr5:179079318-179079319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573960503	chr5:179079334-179079335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12516520	chr5:179079343-179079344	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541275033	chr5:179079362-179079363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559435517	chr5:179079368-179079369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62405732	chr5:179079372-179079373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532951733	chr5:179079390-179079391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551195321	chr5:179079392-179079393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190532313	chr5:179079407-179079408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530493092	chr5:179079424-179079425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192939923	chr5:179079431-179079432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567211128	chr5:179079450-179079451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62405733	chr5:179079460-179079461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148185997	chr5:179079461-179079462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201700328	chr5:179079462-179079463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566413650	chr5:179079481-179079482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62405734	chr5:179079524-179079525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558704095	chr5:179079559-179079560	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179078200-179085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:179078400-179079600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:179078400-179085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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