Variant report

Variant	nsv818250
Chromosome Location	chr4:91195869-91212092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:91081506..91083784-chr4:91211586..91214235,2	MCF-7	breast:
2	chr4:91047797..91050906-chr4:91208827..91216551,11	MCF-7	breast:
3	chr4:91047768..91049636-chr4:91206684..91208393,2	MCF-7	breast:
4	chr4:91049244..91050799-chr4:91210980..91212924,2	MCF-7	breast:
5	chr4:91047990..91050021-chr4:91202743..91205801,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 553 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17016707	chr4:91195869-91195870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577494137	chr4:91195876-91195877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540184153	chr4:91195904-91195905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560106811	chr4:91195929-91195930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529201981	chr4:91195964-91195965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549378623	chr4:91195989-91195990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115054721	chr4:91195993-91195994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11933080	chr4:91196014-91196015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551658338	chr4:91196043-91196044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377500466	chr4:91196050-91196051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571914048	chr4:91196099-91196100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553703846	chr4:91196142-91196143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534484689	chr4:91196147-91196148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372105006	chr4:91196193-91196194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548067040	chr4:91196252-91196253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184535075	chr4:91196260-91196261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78504241	chr4:91196261-91196262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555360778	chr4:91196284-91196285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529595162	chr4:91196285-91196286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575236245	chr4:91196310-91196311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548234056	chr4:91196313-91196314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537974618	chr4:91196315-91196316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557665880	chr4:91196326-91196327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577457558	chr4:91196334-91196335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540049094	chr4:91196407-91196408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559986083	chr4:91196408-91196409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573613588	chr4:91196409-91196410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542640534	chr4:91196410-91196411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562928375	chr4:91196429-91196430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531706162	chr4:91196447-91196448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371085033	chr4:91196529-91196530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545522339	chr4:91196553-91196554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187829569	chr4:91196594-91196595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6814135	chr4:91196602-91196603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192727854	chr4:91196639-91196640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548034512	chr4:91196663-91196664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116924230	chr4:91196719-91196720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567928439	chr4:91196732-91196733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150257098	chr4:91196771-91196772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184690610	chr4:91196822-91196823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548680547	chr4:91196939-91196940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74487143	chr4:91196969-91196970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537536528	chr4:91196995-91196996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557391710	chr4:91197001-91197002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190055297	chr4:91197010-91197011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533703750	chr4:91197011-91197012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10024466	chr4:91197073-91197074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573577434	chr4:91197092-91197093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76063397	chr4:91197131-91197132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556272361	chr4:91197168-91197169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91195400-91200000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:91195400-91201400	Weak transcription	Fetal Intestine Small	intestine
3	chr4:91200000-91200200	Enhancers	Fetal Intestine Large	intestine
4	chr4:91200200-91200800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:91200800-91203200	Enhancers	Fetal Intestine Large	intestine
6	chr4:91201400-91201800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:91201400-91201800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:91201400-91202200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:91201400-91202200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:91201400-91202400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:91201400-91203200	Enhancers	Fetal Intestine Small	intestine
12	chr4:91201600-91201800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:91201600-91202800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:91201800-91202200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:91201800-91204000	Enhancers	Fetal Brain Female	brain
16	chr4:91202200-91202600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:91202200-91203400	Enhancers	Brain Germinal Matrix	brain
18	chr4:91202200-91204000	Enhancers	Fetal Brain Male	brain
19	chr4:91202400-91203200	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:91209400-91210400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:91210000-91210800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:91210400-91211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:91211800-91212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:91212000-91212400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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