Variant report

Variant	nsv822595
Chromosome Location	chr4:69970742-69971602
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	chr4:69964055..69967936-chr4:69969110..69971498,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148631099	chr4:69970758-69970759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535503197	chr4:69970839-69970840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555504456	chr4:69970861-69970862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575458157	chr4:69970875-69970876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10028494	chr4:69970937-69970938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs3924192	chr4:69970964-69970965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs143248219	chr4:69970968-69970969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200457644	chr4:69970974-69970975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369802309	chr4:69970976-69970977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3924193	chr4:69970991-69970992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559659801	chr4:69971008-69971009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573113089	chr4:69971035-69971036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562481560	chr4:69971074-69971075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3924194	chr4:69971092-69971093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs530945569	chr4:69971144-69971145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114274672	chr4:69971169-69971170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146676198	chr4:69971183-69971184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531657857	chr4:69971245-69971246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75875847	chr4:69971267-69971268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78739827	chr4:69971271-69971272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566621825	chr4:69971275-69971276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7435335	chr4:69971335-69971336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs193259754	chr4:69971338-69971339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140230215	chr4:69971476-69971477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144174554	chr4:69971486-69971487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557443506	chr4:69971492-69971493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577584171	chr4:69971500-69971501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150997702	chr4:69971510-69971511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553635171	chr4:69971560-69971561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573239262	chr4:69971574-69971575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10050146	chr4:69971576-69971577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561971586	chr4:69971591-69971592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6600891	chr4:69971596-69971597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69959600-69980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69963000-69982000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:69967200-69971400	Enhancers	HepG2	liver
4	chr4:69967400-69971000	Enhancers	Liver	Liver
5	chr4:69970000-69980400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:69970400-69970800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr4:69970400-69971200	Enhancers	Fetal Intestine Large	intestine
8	chr4:69970400-69971400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:69970600-69971000	Enhancers	Gastric	stomach
10	chr4:69970600-69971000	Enhancers	Pancreas	Pancrea
11	chr4:69970600-69971000	Enhancers	NHEK	skin
12	chr4:69971000-69972000	Weak transcription	Liver	Liver
13	chr4:69971000-69981200	Weak transcription	Pancreas	Pancrea
14	chr4:69971400-69981400	Weak transcription	HepG2	liver

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