Variant report

Variant	nsv818265
Chromosome Location	chr4:121532558-121545138
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	chr4:121526673..121529460-chr4:121534400..121537130,2	MCF-7	breast:
2	chr4:121514733..121517411-chr4:121540771..121542429,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs11732932	chr4:121532558-121532559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539674483	chr4:121532608-121532609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552759080	chr4:121532658-121532659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79030862	chr4:121532661-121532662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535194900	chr4:121532711-121532712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555021692	chr4:121532712-121532713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575228801	chr4:121532761-121532762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543853895	chr4:121532801-121532802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564842709	chr4:121532810-121532811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12508957	chr4:121532823-121532824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72674370	chr4:121532845-121532846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540878346	chr4:121532879-121532880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184273815	chr4:121532886-121532887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529491290	chr4:121532934-121532935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78149367	chr4:121532976-121532977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189747284	chr4:121533012-121533013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553102326	chr4:121533021-121533022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566550171	chr4:121533061-121533062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35625065	chr4:121533080-121533081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549492068	chr4:121533082-121533083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142981152	chr4:121533086-121533087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34860590	chr4:121533093-121533094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74869325	chr4:121533105-121533106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374310010	chr4:121533106-121533107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571577824	chr4:121533160-121533161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181260587	chr4:121533181-121533182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546463675	chr4:121533282-121533283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566355780	chr4:121533326-121533327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535254634	chr4:121533346-121533347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192100944	chr4:121534418-121534419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529534801	chr4:121534452-121534453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138122121	chr4:121534492-121534493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180894910	chr4:121534556-121534557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541021976	chr4:121534558-121534559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367622562	chr4:121534559-121534560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114159828	chr4:121534560-121534561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529159891	chr4:121534576-121534577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115851004	chr4:121534578-121534579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190212658	chr4:121534599-121534600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557850708	chr4:121534601-121534602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140973506	chr4:121534602-121534603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369371026	chr4:121534619-121534620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551229052	chr4:121534622-121534623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182470156	chr4:121534638-121534639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533825396	chr4:121534645-121534646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553815598	chr4:121534745-121534746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186882542	chr4:121534770-121534771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190584598	chr4:121534781-121534782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142380345	chr4:121534827-121534828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556795513	chr4:121534846-121534847	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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121532000-121533400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:121534400-121535200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:121535200-121535600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:121535600-121536000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:121535600-121536000	Enhancers	Ovary	ovary
6	chr4:121536000-121537000	Weak transcription	Ovary	ovary
7	chr4:121537200-121537400	Enhancers	Ovary	ovary
8	chr4:121538600-121539000	Enhancers	Fetal Intestine Large	intestine

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