Variant report

Variant	nsv526498
Chromosome Location	chr4:127347399-127362391
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127351511..127353406-chr4:127384424..127386010,2	K562	blood:
2	chr4:127350740..127352427-chr4:127352755..127354537,2	K562	blood:
3	chr4:127355660..127357794-chr4:127359564..127361433,2	K562	blood:
4	chr4:127355660..127357794-chr4:127359564..127361433,2	K562	blood:
5	chr4:127350740..127352427-chr4:127352755..127354537,2	K562	blood:
6	chr4:127341836..127344814-chr4:127351235..127352909,2	K562	blood:
7	chr17:57920736..57923200-chr4:127350568..127352705,2	MCF-7	breast:
8	chr4:127351878..127354231-chr4:127491279..127492861,2	K562	blood:
9	chr4:127361553..127363076-chr4:127368662..127371476,2	K562	blood:

No data

Extended variants
information (count: 596 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:596 , 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	rs6534561	chr4:127347399-127347400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536276791	chr4:127347400-127347401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12639942	chr4:127347429-127347430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192431667	chr4:127347432-127347433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533827527	chr4:127347442-127347443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560948959	chr4:127347469-127347470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558932839	chr4:127347521-127347522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10857113	chr4:127347544-127347545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184419790	chr4:127347557-127347558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376943485	chr4:127347577-127347578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373123526	chr4:127347585-127347586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79289321	chr4:127347594-127347595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574756440	chr4:127347601-127347602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541828799	chr4:127347616-127347617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112281600	chr4:127347646-127347647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11930415	chr4:127347665-127347666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572251628	chr4:127347700-127347701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546267078	chr4:127347707-127347708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56109546	chr4:127347755-127347756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142801435	chr4:127347790-127347791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569856490	chr4:127347819-127347820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562788832	chr4:127347828-127347829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529977947	chr4:127347845-127347846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548213691	chr4:127347857-127347858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566474617	chr4:127347868-127347869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527436590	chr4:127347880-127347881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376875791	chr4:127347914-127347915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566346279	chr4:127347932-127347933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552233751	chr4:127347959-127347960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189492401	chr4:127347968-127347969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11931394	chr4:127347991-127347992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538447800	chr4:127348011-127348012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370067057	chr4:127348109-127348110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76291185	chr4:127348134-127348135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568417805	chr4:127348149-127348150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575786484	chr4:127348197-127348198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192488373	chr4:127348230-127348231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57447029	chr4:127348271-127348272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397995324	chr4:127348277-127348278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74664081	chr4:127348319-127348320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375275066	chr4:127348346-127348347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565810353	chr4:127348349-127348350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546007106	chr4:127348357-127348358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184535560	chr4:127348368-127348369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543222304	chr4:127348423-127348424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56150762	chr4:127348425-127348426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142363858	chr4:127348489-127348490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544407361	chr4:127348506-127348507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146970390	chr4:127348523-127348524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371020314	chr4:127348568-127348569	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127346200-127388400	Weak transcription	K562	blood
2	chr4:127348800-127349600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:127349000-127349400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:127349000-127349400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:127349400-127349600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:127356400-127357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:127356600-127357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:127356600-127357200	Enhancers	Fetal Lung	lung
9	chr4:127357200-127360000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:127359800-127361000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:127359800-127361400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:127359800-127363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:127359800-127363200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:127360000-127361000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:127360000-127362000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:127360000-127362800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:127360400-127360800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:127360400-127360800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:127360400-127361400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:127360600-127361000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:127360600-127361000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:127360600-127361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:127360800-127361600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:127361000-127362000	Enhancers	Fetal Kidney	kidney
25	chr4:127361000-127362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:127361000-127362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:127361000-127362800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:127361000-127367200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:127361000-127367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:127361400-127361800	Enhancers	Aorta	Aorta
31	chr4:127361400-127362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:127361400-127363200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:127361400-127367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:127361600-127361800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:127361600-127363200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:127361800-127362200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:127362000-127362400	Weak transcription	Fetal Kidney	kidney
38	chr4:127362000-127363000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:127362200-127363000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:127362200-127363000	Enhancers	HUES6 Cell Line	embryonic stem cell

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