Variant report

Variant	nsv461630
Chromosome Location	chr4:118527280-118536829
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	chr4:118534295..118536830-chr4:118537858..118539469,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570125564	chr4:118531828-118531829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17865504	chr4:118531845-118531846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12511367	chr4:118531857-118531858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111481013	chr4:118531858-118531859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17865469	chr4:118531872-118531873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139634739	chr4:118531896-118531897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535520135	chr4:118531946-118531947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555302484	chr4:118531954-118531955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575484033	chr4:118531955-118531956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142293705	chr4:118531958-118531959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186887982	chr4:118531993-118531994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558035707	chr4:118532006-118532007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191481006	chr4:118532010-118532011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375947256	chr4:118532015-118532016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12512192	chr4:118532041-118532042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560519988	chr4:118532046-118532047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17863879	chr4:118532049-118532050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543077572	chr4:118532059-118532060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183737213	chr4:118532061-118532062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145632816	chr4:118532142-118532143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551663211	chr4:118532172-118532173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370079127	chr4:118532228-118532229	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373553471	chr4:118532250-118532251	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571657149	chr4:118532254-118532255	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188616559	chr4:118532304-118532305	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543628480	chr4:118532320-118532321	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2635295	chr4:118532328-118532329	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566442698	chr4:118532346-118532347	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375283450	chr4:118532366-118532367	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192512418	chr4:118532373-118532374	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2635223	chr4:118532410-118532411	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17865040	chr4:118532415-118532416	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569074304	chr4:118532422-118532423	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79934926	chr4:118532544-118532545	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557973790	chr4:118532563-118532564	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182199779	chr4:118532584-118532585	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138248860	chr4:118532589-118532590	Enhancers ZNF genes & repeats	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118531800-118532200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:118531800-118532600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:118531800-118532600	Enhancers	Fetal Heart	heart
4	chr4:118532000-118532400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:118532000-118532600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:118532200-118532600	ZNF genes & repeats	Stomach Mucosa	stomach

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