Variant report

Variant	nsv523419
Chromosome Location	chr4:118635598-118652449
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	4:118636913-118638401..4:118638401-118638661	Hela-S3	cervix:
2	4:118312235-118312291..4:118636913-118638401	H1-hESC	embryonic stem cell:	embryo
3	4:118636913-118638401..4:118638401-118638661	Hela-S3	cervix:

Extended variants
information (count: 59 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376901179	chr4:118646904-118646905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11098403	chr4:118646907-118646908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
3	rs193172255	chr4:118646917-118646918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11562905	chr4:118647029-118647030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376635136	chr4:118647083-118647084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548513500	chr4:118647144-118647145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185407904	chr4:118647153-118647154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375962881	chr4:118647256-118647257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537453826	chr4:118647270-118647271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550962170	chr4:118647317-118647318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570979829	chr4:118647325-118647326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17867539	chr4:118647375-118647376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17867464	chr4:118647382-118647383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553176794	chr4:118647396-118647397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs67156175	chr4:118647397-118647398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568826492	chr4:118647398-118647399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568854841	chr4:118647399-118647400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535668755	chr4:118647400-118647401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398107898	chr4:118647406-118647407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114549023	chr4:118647408-118647409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17861251	chr4:118647416-118647417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575491348	chr4:118647456-118647457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138793327	chr4:118647467-118647468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17866809	chr4:118647564-118647565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191424478	chr4:118647575-118647576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545914780	chr4:118647578-118647579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183944853	chr4:118647580-118647581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188617355	chr4:118647581-118647582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548042722	chr4:118647621-118647622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146997971	chr4:118647691-118647692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35478348	chr4:118647728-118647729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571456881	chr4:118647760-118647761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550874095	chr4:118647770-118647771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570893566	chr4:118647771-118647772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186655605	chr4:118647778-118647779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547117604	chr4:118647779-118647780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6811729	chr4:118647785-118647786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6837472	chr4:118647796-118647797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555505836	chr4:118647831-118647832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150521999	chr4:118647843-118647844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534025752	chr4:118647852-118647853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553942849	chr4:118647860-118647861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs29001655	chr4:118647867-118647868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4833550	chr4:118647905-118647906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536774901	chr4:118647986-118647987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17866808	chr4:118647987-118647988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545437418	chr4:118648008-118648009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17866365	chr4:118648011-118648012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376286876	chr4:118648012-118648013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72905328	chr4:118648023-118648024	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118646800-118648200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:118647000-118647400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:118647000-118647600	Enhancers	HUES48 Cell Line	embryonic stem cell

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