Variant report

Variant	nsv967743
Chromosome Location	chr4:49018396-49018986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 62 )

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	rs181973086	chr4:49018429-49018430	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561747976	chr4:49018434-49018435	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137939687	chr4:49018444-49018445	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547194703	chr4:49018456-49018457	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142417519	chr4:49018483-49018484	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183577135	chr4:49018520-49018521	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575567184	chr4:49018525-49018526	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552827081	chr4:49018526-49018527	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536536426	chr4:49018539-49018540	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571106287	chr4:49018551-49018552	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145946074	chr4:49018671-49018672	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535300111	chr4:49018700-49018701	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148618977	chr4:49018729-49018730	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189624017	chr4:49018767-49018768	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535528133	chr4:49018771-49018772	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181270207	chr4:49018781-49018782	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186593112	chr4:49018787-49018788	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115244850	chr4:49018807-49018808	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564383584	chr4:49018833-49018834	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142052233	chr4:49018886-49018887	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150808554	chr4:49018900-49018901	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561835265	chr4:49018906-49018907	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12505576	chr4:49018914-49018915	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs547430669	chr4:49018929-49018930	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79850378	chr4:49018932-49018933	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113169520	chr4:49018949-49018950	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532940506	chr4:49018960-49018961	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191437727	chr4:49018966-49018967	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145246289	chr4:49018973-49018974	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181668540	chr4:49018975-49018976	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550084306	chr4:49018984-49018985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186199348	chr4:49018985-49018986	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48991400-49018400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:49018000-49019400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:49018200-49019200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr4:49018400-49019600	Strong transcription	Rectal Mucosa Donor 29	rectum

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