Variant report

Variant	nsv879571
Chromosome Location	chr4:92281419-92483806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
2	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:
3	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
4	chr17:56708841..56709425-chr4:92369580..92370294,2	Hela-S3	cervix:
5	chr12:30949150..30949851-chr4:92369989..92370606,2	Hela-S3	cervix:
6	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:
7	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1041 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114042000	chr4:92290003-92290004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187626094	chr4:92290021-92290022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546025452	chr4:92290048-92290049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117746081	chr4:92290181-92290182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573614279	chr4:92290236-92290237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541619481	chr4:92290269-92290270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146934560	chr4:92290370-92290371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145269281	chr4:92290420-92290421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561718649	chr4:92290421-92290422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28409340	chr4:92290447-92290448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116595306	chr4:92290471-92290472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571005176	chr4:92290480-92290481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11728349	chr4:92290560-92290561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549634059	chr4:92290566-92290567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181302630	chr4:92303214-92303215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149304991	chr4:92303249-92303250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144559795	chr4:92303252-92303253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186411962	chr4:92303260-92303261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560987072	chr4:92303299-92303300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369960625	chr4:92303311-92303312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373427080	chr4:92303320-92303321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369656341	chr4:92303321-92303322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543731293	chr4:92303347-92303348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563658505	chr4:92303348-92303349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148024659	chr4:92303356-92303357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191658398	chr4:92303363-92303364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141473032	chr4:92303370-92303371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114605715	chr4:92303396-92303397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115374002	chr4:92303399-92303400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147470583	chr4:92303415-92303416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536232270	chr4:92303434-92303435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549775745	chr4:92303435-92303436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569950379	chr4:92303469-92303470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538509480	chr4:92303484-92303485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558761834	chr4:92303506-92303507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572137873	chr4:92303522-92303523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182842794	chr4:92303558-92303559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs373220555	chr4:92303571-92303572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139919104	chr4:92303573-92303574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11938361	chr4:92303579-92303580	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145343708	chr4:92303580-92303581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563301162	chr4:92303586-92303587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114862160	chr4:92303594-92303595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535040580	chr4:92303598-92303599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11938470	chr4:92303629-92303630	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187879873	chr4:92303631-92303632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6532304	chr4:92303639-92303640	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190879738	chr4:92303658-92303659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539337902	chr4:92303684-92303685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182337734	chr4:92303757-92303758	ZNF genes & repeats	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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92290000-92290600	Enhancers	Fetal Kidney	kidney
2	chr4:92303200-92303800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:92303200-92304000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:92326800-92327000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:92333600-92333800	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:92348000-92348400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:92348000-92348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:92348200-92348600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:92348200-92348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:92348200-92348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:92348200-92348800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:92348200-92348800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:92369800-92372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:92370000-92370600	Enhancers	NH-A	brain
15	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:92370200-92370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:92370200-92370600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:92370400-92371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:92370400-92371600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:92370600-92375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:92371200-92371400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:92371400-92375000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:92372000-92375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:92373800-92374200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:92375000-92375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:92375000-92375400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:92375000-92375400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:92375000-92375800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:92375200-92375600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:92408000-92408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:92408200-92408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:92408200-92408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:92408200-92408800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:92408400-92408600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:92408400-92408800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:92408600-92409600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:92408600-92409600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:92408800-92410000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:92408800-92410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:92409600-92410000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:92409800-92410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:92410000-92410400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:92410200-92410400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:92432400-92432800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:92432800-92439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:92439600-92440000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:92439800-92440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:92440000-92440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:92440200-92443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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