Variant report

Variant	nsv879906
Chromosome Location	chr4:127354073-127414252
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:127393776..127396418-chr4:127400687..127402446,2	K562	blood:
2	chr4:127396571..127400673-chr4:127401493..127405993,4	K562	blood:
3	chr4:127351511..127353406-chr4:127384424..127386010,2	K562	blood:
4	chr4:127392617..127394785-chr4:127410243..127411886,2	K562	blood:
5	chr4:127350740..127352427-chr4:127352755..127354537,2	K562	blood:
6	chr4:127374746..127378730-chr4:127382630..127385054,3	K562	blood:
7	chr4:127404431..127407889-chr4:127409968..127412759,3	K562	blood:
8	chr4:127392617..127394785-chr4:127410243..127411886,2	K562	blood:
9	chr4:127397720..127399980-chr4:127400874..127404758,3	K562	blood:
10	chr4:127355660..127357794-chr4:127359564..127361433,2	K562	blood:
11	chr4:127393776..127396418-chr4:127400687..127402446,2	K562	blood:
12	chr4:127397720..127399980-chr4:127400874..127404758,3	K562	blood:
13	chr4:127404431..127407889-chr4:127409968..127412759,3	K562	blood:
14	chr4:127361553..127363076-chr4:127368662..127371476,2	K562	blood:
15	chr4:127396571..127400673-chr4:127401493..127405993,4	K562	blood:
16	chr4:127404431..127406703-chr4:127409978..127411924,2	K562	blood:
17	chr4:127380458..127382977-chr4:127386383..127388629,2	MCF-7	breast:
18	chr4:127361553..127363076-chr4:127368662..127371476,2	K562	blood:
19	chr4:127404431..127406703-chr4:127409978..127411924,2	K562	blood:
20	chr4:127374746..127378730-chr4:127382630..127385054,3	K562	blood:
21	chr4:127380458..127382977-chr4:127386383..127388629,2	MCF-7	breast:
22	chr4:127355660..127357794-chr4:127359564..127361433,2	K562	blood:
23	chr4:127405680..127406372-chr4:127525098..127525686,2	MCF-7	breast:
24	chr4:127351878..127354231-chr4:127491279..127492861,2	K562	blood:

No data

Extended variants
information (count: 2392 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2392 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1396529	chr4:127354073-127354074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572405400	chr4:127354079-127354080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540425675	chr4:127354089-127354090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367826390	chr4:127354156-127354157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577249249	chr4:127354175-127354176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73847999	chr4:127354187-127354188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562497943	chr4:127354220-127354221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556951255	chr4:127354228-127354229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529736942	chr4:127354262-127354263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547843052	chr4:127354272-127354273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547422467	chr4:127354294-127354295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576962321	chr4:127354333-127354334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545573771	chr4:127354335-127354336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372429521	chr4:127354357-127354358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573949560	chr4:127354364-127354365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569808269	chr4:127354366-127354367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375504625	chr4:127354378-127354379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560202725	chr4:127354398-127354399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572870461	chr4:127354454-127354455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114791327	chr4:127354496-127354497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57447011	chr4:127354497-127354498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377069840	chr4:127354549-127354550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570703374	chr4:127354585-127354586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541972097	chr4:127354646-127354647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538183595	chr4:127354659-127354660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369288625	chr4:127354690-127354691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550082118	chr4:127354718-127354719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114257061	chr4:127354731-127354732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561552738	chr4:127354757-127354758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186966692	chr4:127354780-127354781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371995708	chr4:127354781-127354782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191401405	chr4:127354828-127354829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28668802	chr4:127354870-127354871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539540842	chr4:127354948-127354949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558749366	chr4:127355001-127355002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577091663	chr4:127355059-127355060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73848001	chr4:127355075-127355076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562786867	chr4:127355100-127355101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112740367	chr4:127355164-127355165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574744320	chr4:127355174-127355175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111477794	chr4:127355197-127355198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150672788	chr4:127355275-127355276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372888111	chr4:127355352-127355353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201699288	chr4:127355361-127355362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3039327	chr4:127355371-127355372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200092929	chr4:127355372-127355373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200702172	chr4:127355374-127355375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201706235	chr4:127355376-127355377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs70963932	chr4:127355378-127355379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200976900	chr4:127355380-127355381	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127346200-127388400	Weak transcription	K562	blood
2	chr4:127356400-127357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:127356600-127357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:127356600-127357200	Enhancers	Fetal Lung	lung
5	chr4:127357200-127360000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:127359800-127361000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:127359800-127361400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:127359800-127363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:127359800-127363200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:127360000-127361000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:127360000-127362000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:127360000-127362800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:127360400-127360800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:127360400-127360800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:127360400-127361400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:127360600-127361000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:127360600-127361000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:127360600-127361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:127360800-127361600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:127361000-127362000	Enhancers	Fetal Kidney	kidney
21	chr4:127361000-127362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:127361000-127362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:127361000-127362800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:127361000-127367200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:127361000-127367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:127361400-127361800	Enhancers	Aorta	Aorta
27	chr4:127361400-127362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:127361400-127363200	Enhancers	Colon Smooth Muscle	Colon
29	chr4:127361400-127367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:127361600-127361800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:127361600-127363200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:127361800-127362200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:127362000-127362400	Weak transcription	Fetal Kidney	kidney
34	chr4:127362000-127363000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:127362200-127363000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:127362200-127363000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:127362400-127362800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:127362400-127362800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:127362400-127362800	Enhancers	Fetal Kidney	kidney
40	chr4:127362600-127363000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:127362600-127363200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:127362800-127363200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:127362800-127367200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:127363000-127363200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:127363000-127367000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:127363000-127367000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:127363000-127367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:127363000-127369400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:127363200-127365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:127363200-127367600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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