Variant report

Variant	nsv1024453
Chromosome Location	chr4:160373221-160395135
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:160376473..160377125-chr4:160404962..160405573,2	MCF-7	breast:
2	chr4:160384599..160386865-chr4:160388331..160389895,2	K562	blood:
3	chr4:160376717..160379347-chr4:160382890..160385287,2	K562	blood:
4	chr4:160376717..160379347-chr4:160382890..160385287,2	K562	blood:
5	chr4:160384599..160386865-chr4:160388331..160389895,2	K562	blood:
6	chr4:159181271..159181780-chr4:160376201..160377009,2	K562	blood:
7	chr4:160362877..160365543-chr4:160372401..160374638,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAPGEF2-4	chr4:160381767-160381999	expReg_chr4_8015_+

No data

Extended variants
information (count: 880 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75170363	chr4:160373225-160373226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547102422	chr4:160373226-160373227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570409698	chr4:160373238-160373239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536380901	chr4:160373268-160373269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539376377	chr4:160373280-160373281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184017239	chr4:160373340-160373341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569553431	chr4:160373377-160373378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190063879	chr4:160373398-160373399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555094315	chr4:160373418-160373419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557282276	chr4:160373420-160373421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568296134	chr4:160373431-160373432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572228611	chr4:160373488-160373489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80309084	chr4:160373494-160373495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557901062	chr4:160373538-160373539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577948501	chr4:160373550-160373551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567864928	chr4:160373600-160373601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563999923	chr4:160373602-160373603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574345988	chr4:160373702-160373703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182081307	chr4:160373723-160373724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559961052	chr4:160373755-160373756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111602340	chr4:160373840-160373841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17038234	chr4:160373894-160373895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76532580	chr4:160373920-160373921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532930203	chr4:160373931-160373932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549469465	chr4:160373932-160373933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375703396	chr4:160373944-160373945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569617218	chr4:160373971-160373972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62337625	chr4:160374002-160374003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553097382	chr4:160374009-160374010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76744395	chr4:160374014-160374015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62337626	chr4:160374034-160374035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372901982	chr4:160374061-160374062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2699041	chr4:160374089-160374090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11938200	chr4:160374098-160374099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs62337627	chr4:160374102-160374103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542725435	chr4:160374103-160374104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557347380	chr4:160374180-160374181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561194149	chr4:160374192-160374193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574410084	chr4:160374201-160374202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543312432	chr4:160374231-160374232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186679226	chr4:160374238-160374239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35733325	chr4:160374240-160374241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11947461	chr4:160374255-160374256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540010699	chr4:160374264-160374265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540807127	chr4:160374286-160374287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147561791	chr4:160374298-160374299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190792393	chr4:160374328-160374329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549768955	chr4:160374332-160374333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181863644	chr4:160374387-160374388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78491738	chr4:160374401-160374402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160368200-160376600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:160368400-160390200	Weak transcription	NHEK	skin
3	chr4:160372400-160373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:160373800-160386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:160374200-160374400	Weak transcription	NHDF-Ad	bronchial
6	chr4:160374400-160374600	Enhancers	NHDF-Ad	bronchial
7	chr4:160374600-160376600	Weak transcription	NHDF-Ad	bronchial
8	chr4:160374800-160377800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:160375000-160377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:160375800-160376200	Enhancers	A549	lung
11	chr4:160376200-160376800	Active TSS	Placenta	Placenta
12	chr4:160376200-160377200	Active TSS	A549	lung
13	chr4:160376600-160377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:160376600-160377200	Active TSS	HepG2	liver
15	chr4:160376600-160377200	Enhancers	NHDF-Ad	bronchial
16	chr4:160376600-160377600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:160376800-160377400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:160377000-160377200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:160377000-160377200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:160377000-160377200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:160377000-160377200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:160377000-160377200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:160377000-160377200	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:160377000-160377200	Flanking Active TSS	NH-A	brain
25	chr4:160377000-160377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:160377000-160377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:160377000-160377400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:160377000-160377400	Enhancers	Fetal Lung	lung
29	chr4:160377000-160377400	Enhancers	HMEC	breast
30	chr4:160377000-160377400	Enhancers	HSMM	muscle
31	chr4:160377000-160377400	Enhancers	HUVEC	blood vessel
32	chr4:160377200-160377400	Flanking Active TSS	A549	lung
33	chr4:160377200-160377400	Flanking Active TSS	HepG2	liver
34	chr4:160377200-160377400	Active TSS	NH-A	brain
35	chr4:160377200-160386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:160377400-160377600	Weak transcription	Fetal Lung	lung
37	chr4:160377400-160377600	Enhancers	HepG2	liver
38	chr4:160377600-160378000	Enhancers	Fetal Lung	lung
39	chr4:160378000-160381400	Weak transcription	Fetal Lung	lung
40	chr4:160379200-160386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:160381400-160381800	Enhancers	Fetal Lung	lung
42	chr4:160381400-160382000	Enhancers	NHLF	lung
43	chr4:160381600-160382200	Enhancers	Fetal Stomach	stomach
44	chr4:160381600-160382400	Enhancers	Fetal Muscle Leg	muscle
45	chr4:160386200-160386600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:160386200-160386600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:160386200-160387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:160386800-160387000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:160387000-160389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:160389000-160391400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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