Variant report

Variant	nsv880403
Chromosome Location	chr4:175485318-175535392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
2	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:
3	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
4	chr4:175521782..175524455-chr4:175541402..175543180,2	K562	blood:
5	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
6	chr4:175533943..175535953-chr4:175558872..175561336,2	K562	blood:
7	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
8	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
9	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
10	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
11	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
12	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:

No data

Extended variants
information (count: 1791 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1791 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7687916	chr4:175485318-175485319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185972227	chr4:175485343-175485344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573276790	chr4:175485373-175485374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542332570	chr4:175485442-175485443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28450741	chr4:175485481-175485482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189304103	chr4:175485512-175485513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545237966	chr4:175485530-175485531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546483045	chr4:175485577-175485578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139706057	chr4:175485659-175485660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527620062	chr4:175485723-175485724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547693503	chr4:175485741-175485742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537023862	chr4:175485765-175485766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372812500	chr4:175485784-175485785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529270742	chr4:175485791-175485792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375061925	chr4:175485798-175485799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377093627	chr4:175485879-175485880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149794249	chr4:175485925-175485926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147914233	chr4:175485940-175485941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1365624	chr4:175485950-175485951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182308803	chr4:175485954-175485955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75750832	chr4:175485969-175485970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372960875	chr4:175485990-175485991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186254741	chr4:175486011-175486012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141745426	chr4:175486020-175486021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1365623	chr4:175486022-175486023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75045889	chr4:175486023-175486024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147075870	chr4:175486049-175486050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1365622	chr4:175486072-175486073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190618179	chr4:175486080-175486081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201774555	chr4:175486081-175486082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72704189	chr4:175486100-175486101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541352845	chr4:175486122-175486123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555737204	chr4:175486138-175486139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529308340	chr4:175486217-175486218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1365621	chr4:175486220-175486221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9997598	chr4:175486247-175486248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531865624	chr4:175486296-175486297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182928535	chr4:175486317-175486318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571830080	chr4:175486344-175486345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185742753	chr4:175486429-175486430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574212762	chr4:175486431-175486432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191186127	chr4:175486448-175486449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1365620	chr4:175486485-175486486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113517225	chr4:175486496-175486497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1365619	chr4:175486502-175486503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149209521	chr4:175486521-175486522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115703034	chr4:175486553-175486554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558335086	chr4:175486662-175486663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183093000	chr4:175486692-175486693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544188010	chr4:175486720-175486721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175480800-175485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:175481000-175485400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:175483200-175485600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:175483200-175485600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:175484200-175485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:175484200-175485600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:175484400-175485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:175484600-175485600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:175485200-175490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:175485400-175490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:175485400-175490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:175485600-175490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:175485600-175490400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:175485600-175490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:175485600-175490400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:175485600-175490600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:175489800-175490600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:175490200-175490800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:175490200-175491000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:175490200-175491000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:175490400-175490800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:175490400-175491000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:175490600-175491000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:175490600-175491000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:175491000-175497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:175495600-175495800	Enhancers	Placenta	Placenta
27	chr4:175496600-175497000	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:175496600-175497200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:175496800-175497000	Enhancers	NHEK	skin
30	chr4:175496800-175497200	Enhancers	Fetal Intestine Large	intestine
31	chr4:175496800-175497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:175496800-175497400	Enhancers	Small Intestine	intestine
33	chr4:175497000-175499200	Weak transcription	NHEK	skin
34	chr4:175497000-175504000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:175497200-175503600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:175497400-175497800	Weak transcription	Small Intestine	intestine
37	chr4:175497600-175498000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:175497600-175501600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:175497800-175498200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:175497800-175498200	Enhancers	Placenta	Placenta
41	chr4:175497800-175498200	Enhancers	Small Intestine	intestine
42	chr4:175498000-175498400	Enhancers	NHDF-Ad	bronchial
43	chr4:175498000-175501600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:175498000-175502200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:175498200-175503400	Weak transcription	Placenta	Placenta
46	chr4:175498400-175498800	Weak transcription	NHDF-Ad	bronchial
47	chr4:175498800-175500000	Enhancers	NHDF-Ad	bronchial
48	chr4:175499200-175499600	Enhancers	HMEC	breast
49	chr4:175499200-175499800	Enhancers	NHEK	skin
50	chr4:175499200-175500000	Enhancers	NH-A	brain

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