Variant report

Variant	nsv879579
Chromosome Location	chr4:92373327-92520419
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	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:

Extended variants
information (count: 1906 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1906 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1922230	chr4:92373327-92373328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541460112	chr4:92373354-92373355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536977257	chr4:92373391-92373392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564482902	chr4:92373395-92373396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556895785	chr4:92373409-92373410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576753913	chr4:92373444-92373445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182581889	chr4:92373450-92373451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565433546	chr4:92373472-92373473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188200277	chr4:92373475-92373476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6834057	chr4:92373499-92373500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564519243	chr4:92373527-92373528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370598644	chr4:92373530-92373531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114041539	chr4:92373531-92373532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548911780	chr4:92373561-92373562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562431606	chr4:92373593-92373594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6834106	chr4:92373618-92373619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540961618	chr4:92373655-92373656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367768156	chr4:92373659-92373660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372084391	chr4:92373669-92373670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571390769	chr4:92373701-92373702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1955376	chr4:92373722-92373723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs547851646	chr4:92373725-92373726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529515055	chr4:92373767-92373768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547946134	chr4:92373784-92373785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563408539	chr4:92373799-92373800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576814140	chr4:92373823-92373824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539292057	chr4:92373825-92373826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558902944	chr4:92373904-92373905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151197190	chr4:92373910-92373911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368838790	chr4:92373944-92373945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139147299	chr4:92373999-92374000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1997499	chr4:92374029-92374030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149809975	chr4:92374032-92374033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551743738	chr4:92374045-92374046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145754599	chr4:92374054-92374055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374948603	chr4:92374203-92374204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372369146	chr4:92374280-92374281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185247449	chr4:92374283-92374284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564965945	chr4:92374287-92374288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74972502	chr4:92374292-92374293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377219467	chr4:92374298-92374299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377134103	chr4:92374313-92374314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58012222	chr4:92374343-92374344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35952203	chr4:92374372-92374373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189835010	chr4:92374373-92374374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550222459	chr4:92374392-92374393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113340384	chr4:92374455-92374456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192531712	chr4:92374498-92374499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184808746	chr4:92374504-92374505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188355044	chr4:92374596-92374597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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 cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92370600-92375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:92371400-92375000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:92372000-92375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:92373800-92374200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:92375000-92375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:92375000-92375400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:92375000-92375400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:92375000-92375800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:92375200-92375600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:92408000-92408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:92408200-92408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:92408200-92408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:92408200-92408800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:92408400-92408600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:92408400-92408800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:92408600-92409600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:92408600-92409600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:92408800-92410000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:92408800-92410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:92409600-92410000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:92409800-92410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:92410000-92410400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:92410200-92410400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:92432400-92432800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:92432800-92439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:92439600-92440000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:92439800-92440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:92440000-92440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:92440200-92443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:92446200-92446600	Enhancers	Fetal Intestine Large	intestine
31	chr4:92446200-92446600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr4:92446600-92447000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:92446600-92447000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:92446600-92447000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr4:92446600-92447000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr4:92459600-92460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:92480000-92487000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:92487000-92487600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:92487600-92491000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:92488200-92490600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:92488400-92489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:92488400-92490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:92488600-92489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:92488800-92489400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:92488800-92490200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:92489000-92489400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:92489000-92490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:92489200-92489600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:92489400-92489600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:92489400-92490400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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