Variant report

Variant	nsv595330
Chromosome Location	chr4:119128463-119134308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535825619	chr4:119128488-119128489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182000688	chr4:119128555-119128556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186282278	chr4:119128556-119128557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556127108	chr4:119128576-119128577	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188977331	chr4:119128623-119128624	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74336569	chr4:119128676-119128677	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144084292	chr4:119128795-119128796	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554123320	chr4:119128916-119128917	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28619162	chr4:119128945-119128946	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76748255	chr4:119129047-119129048	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563046942	chr4:119129048-119129049	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13109168	chr4:119129124-119129125	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145611240	chr4:119129136-119129137	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545638098	chr4:119129218-119129219	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565505894	chr4:119129269-119129270	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558286288	chr4:119129270-119129271	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533043907	chr4:119129322-119129323	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139373074	chr4:119129337-119129338	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16997442	chr4:119129346-119129347	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76412295	chr4:119129372-119129373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17626479	chr4:119129455-119129456	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368277459	chr4:119129464-119129465	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568829158	chr4:119129473-119129474	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537623618	chr4:119129606-119129607	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149341683	chr4:119129656-119129657	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7689157	chr4:119129669-119129670	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs7688806	chr4:119129684-119129685	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs553974683	chr4:119129725-119129726	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144697459	chr4:119129755-119129756	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148528517	chr4:119129846-119129847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113125092	chr4:119129867-119129868	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556787015	chr4:119129925-119129926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544696718	chr4:119129971-119129972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576786747	chr4:119130018-119130019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545750383	chr4:119130091-119130092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186302690	chr4:119130134-119130135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191544361	chr4:119130139-119130140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540277063	chr4:119130151-119130152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111450980	chr4:119130199-119130200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560000938	chr4:119130207-119130208	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10213280	chr4:119130224-119130225	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs142897307	chr4:119130263-119130264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561850808	chr4:119130277-119130278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562174659	chr4:119130300-119130301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183037764	chr4:119130384-119130385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72677007	chr4:119130436-119130437	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs186263377	chr4:119130447-119130448	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190675273	chr4:119130453-119130454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547833791	chr4:119130491-119130492	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567674921	chr4:119130521-119130522	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:119127600-119131200	Strong transcription	Dnd41	blood
3	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:119129600-119129800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:119130200-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:119130400-119131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:119130400-119131600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:119130600-119130800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:119130600-119131200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:119130600-119131400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:119130800-119131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:119131200-119133000	Weak transcription	Dnd41	blood
25	chr4:119133000-119138600	Strong transcription	Dnd41	blood
26	chr4:119134000-119134600	Enhancers	Liver	Liver

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