Variant report

Variant	nsv596210
Chromosome Location	chr4:173409387-173431679
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	chr4:173404168..173405809-chr4:173407513..173409648,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1995068	chr4:173409387-173409388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183153351	chr4:173409388-173409389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144894207	chr4:173409420-173409421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189178229	chr4:173409429-173409430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113067360	chr4:173409430-173409431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554881087	chr4:173409440-173409441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574476238	chr4:173409467-173409468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543478329	chr4:173409475-173409476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557399181	chr4:173409574-173409575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72995061	chr4:173409594-173409595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147542421	chr4:173409601-173409602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564606949	chr4:173409637-173409638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533706018	chr4:173409657-173409658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572318738	chr4:173409658-173409659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541324342	chr4:173409684-173409685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185442741	chr4:173409779-173409780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550102287	chr4:173409806-173409807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549536889	chr4:173409844-173409845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563363891	chr4:173409865-173409866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189550348	chr4:173409876-173409877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570301779	chr4:173409891-173409892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535907026	chr4:173409896-173409897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139407765	chr4:173409897-173409898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564236772	chr4:173409903-173409904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553117180	chr4:173409913-173409914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549523113	chr4:173409950-173409951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145041671	chr4:173409997-173409998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3104246	chr4:173410125-173410126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537417645	chr4:173410133-173410134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550108548	chr4:173415612-173415613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs338006	chr4:173415659-173415660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542723849	chr4:173415661-173415662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558866520	chr4:173415688-173415689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572083757	chr4:173415693-173415694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534715522	chr4:173415721-173415722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555021258	chr4:173415754-173415755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535403498	chr4:173415793-173415794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574841395	chr4:173415828-173415829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185618293	chr4:173415830-173415831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79162195	chr4:173415833-173415834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565875594	chr4:173415848-173415849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112432827	chr4:173415854-173415855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188839260	chr4:173415927-173415928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143217700	chr4:173415968-173415969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547098553	chr4:173415973-173415974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113355318	chr4:173415974-173415975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529760567	chr4:173416022-173416023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544900439	chr4:173416053-173416054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549887352	chr4:173416055-173416056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569910043	chr4:173416059-173416060	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173403600-173410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:173415600-173417400	Enhancers	Hela-S3	cervix
3	chr4:173416600-173417000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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