Variant report

Variant	nsv436957
Chromosome Location	chr4:91926649-91941029
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	chr4:91938775..91940847-chr4:91941270..91944151,2	K562	blood:

Extended variants
information (count: 289 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1381300	chr4:91926649-91926650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550249169	chr4:91926657-91926658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148480798	chr4:91926677-91926678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200276823	chr4:91926682-91926683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201053829	chr4:91926686-91926687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181551072	chr4:91926761-91926762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186428498	chr4:91926833-91926834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559218731	chr4:91926868-91926869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141610620	chr4:91926879-91926880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533884192	chr4:91926909-91926910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553758486	chr4:91926912-91926913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200121426	chr4:91926992-91926993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs728701	chr4:91927023-91927024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537211556	chr4:91927054-91927055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565123791	chr4:91927075-91927076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562666410	chr4:91927140-91927141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368300669	chr4:91927152-91927153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576306263	chr4:91927178-91927179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532951069	chr4:91927202-91927203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544768841	chr4:91927226-91927227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190833579	chr4:91927263-91927264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371853053	chr4:91927264-91927265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7680898	chr4:91927272-91927273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561324937	chr4:91927273-91927274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530075339	chr4:91927340-91927341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115531483	chr4:91927346-91927347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570226502	chr4:91927404-91927405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552203112	chr4:91927408-91927409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9992741	chr4:91927412-91927413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138663933	chr4:91927450-91927451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35319129	chr4:91927533-91927534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150760603	chr4:91927534-91927535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371743746	chr4:91927563-91927564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373839354	chr4:91927579-91927580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182960785	chr4:91927591-91927592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549385964	chr4:91927625-91927626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113454016	chr4:91927636-91927637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553630037	chr4:91927639-91927640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567997060	chr4:91927644-91927645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573557361	chr4:91927648-91927649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187678731	chr4:91927672-91927673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556138400	chr4:91927679-91927680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190907330	chr4:91927701-91927702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532188659	chr4:91927702-91927703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564733885	chr4:91927703-91927704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571949555	chr4:91927710-91927711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541112023	chr4:91927831-91927832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561253371	chr4:91927888-91927889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573288283	chr4:91927889-91927890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112882922	chr4:91928017-91928018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:91925800-91930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:91928400-91928800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:91930000-91930400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:91930400-91932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:91932600-91933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:91933600-91933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:91939400-91941000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:91939600-91941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:91939600-91941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:91940400-91941000	Enhancers	HUES64 Cell Line	embryonic stem cell

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