Variant report

Variant	nsv968917
Chromosome Location	chr5:60039988-60040709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60017651..60020271-chr5:60037416..60040413,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559380331	chr5:60040017-60040018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528469858	chr5:60040019-60040020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548172353	chr5:60040036-60040037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10054744	chr5:60040047-60040048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs10069929	chr5:60040060-60040061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551179997	chr5:60040075-60040076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141193765	chr5:60040079-60040080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184169298	chr5:60040127-60040128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35518039	chr5:60040185-60040186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540007715	chr5:60040272-60040273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576488475	chr5:60040319-60040320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558697563	chr5:60040323-60040324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373463469	chr5:60040340-60040341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550771164	chr5:60040341-60040342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554259306	chr5:60040413-60040414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187707894	chr5:60040417-60040418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543770468	chr5:60040418-60040419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536925125	chr5:60040435-60040436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4577661	chr5:60040467-60040468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs576636352	chr5:60040492-60040493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149964689	chr5:60040522-60040523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559465860	chr5:60040525-60040526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572989073	chr5:60040563-60040564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144999357	chr5:60040605-60040606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs4400080	chr5:60040636-60040637	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs368686369	chr5:60040638-60040639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192169572	chr5:60040639-60040640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551010067	chr5:60040645-60040646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560315419	chr5:60040672-60040673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs564732010	chr5:60040674-60040675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533570986	chr5:60040692-60040693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs182793832	chr5:60040695-60040696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60036200-60044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60037400-60047600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:60039200-60040200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60039600-60041000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:60040600-60040800	ZNF genes & repeats	Fetal Intestine Small	intestine

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