Variant report

Variant	nsv934268
Chromosome Location	chr5:147466236-147467945
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	FOS	chr5:147467256-147467313	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr5:147466722-147466998	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SPINK5	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551221114	chr5:147466270-147466271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569191410	chr5:147466278-147466279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72660253	chr5:147466342-147466343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554940137	chr5:147466418-147466419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1422996	chr5:147466465-147466466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs67406256	chr5:147466522-147466523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540584641	chr5:147466527-147466528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199641004	chr5:147466531-147466532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200574514	chr5:147466533-147466534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201849240	chr5:147466534-147466535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201576072	chr5:147466535-147466536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532844109	chr5:147466536-147466537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13160193	chr5:147466562-147466563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs139994724	chr5:147466679-147466680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79311897	chr5:147466747-147466748	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34403188	chr5:147466776-147466777	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577736281	chr5:147466816-147466817	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374312065	chr5:147466835-147466836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375469021	chr5:147466848-147466849	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191715857	chr5:147466871-147466872	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557252198	chr5:147466910-147466911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559860935	chr5:147467052-147467053	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375432546	chr5:147467094-147467095	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575610183	chr5:147467143-147467144	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543086798	chr5:147467164-147467165	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183491737	chr5:147467187-147467188	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542965411	chr5:147467219-147467220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559740774	chr5:147467285-147467286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540695237	chr5:147467361-147467362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565353731	chr5:147467373-147467374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145328348	chr5:147467482-147467483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199756429	chr5:147467489-147467490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71580480	chr5:147467506-147467507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114716652	chr5:147467553-147467554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548451813	chr5:147467593-147467594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13356011	chr5:147467627-147467628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144331939	chr5:147467628-147467629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186335880	chr5:147467629-147467630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147370059	chr5:147467648-147467649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548575696	chr5:147467701-147467702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115710179	chr5:147467787-147467788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534438747	chr5:147467797-147467798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553069400	chr5:147467834-147467835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571235013	chr5:147467838-147467839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568350948	chr5:147467867-147467868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538876869	chr5:147467887-147467888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557185905	chr5:147467893-147467894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575620403	chr5:147467936-147467937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147450400-147469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:147450600-147468600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:147451000-147470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:147454000-147470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:147455600-147469000	Weak transcription	Esophagus	oesophagus
7	chr5:147462600-147471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:147463200-147466800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:147464000-147469800	Enhancers	Hela-S3	cervix
10	chr5:147464200-147491200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:147464400-147469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:147464400-147488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:147465200-147467200	Enhancers	NHEK	skin
14	chr5:147465400-147467200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:147465600-147469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:147466200-147469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:147466200-147471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:147466800-147467000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:147467000-147467200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:147467200-147469600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:147467200-147469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:147467200-147469600	Weak transcription	NHEK	skin

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