Variant report

Variant	nsv523255
Chromosome Location	chr4:160374255-160388504
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	chr4:160384599..160386865-chr4:160388331..160389895,2	K562	blood:
2	chr4:160362877..160365543-chr4:160372401..160374638,2	K562	blood:
3	chr4:159181271..159181780-chr4:160376201..160377009,2	K562	blood:
4	chr4:160376717..160379347-chr4:160382890..160385287,2	K562	blood:
5	chr4:160376473..160377125-chr4:160404962..160405573,2	MCF-7	breast:
6	chr4:160384599..160386865-chr4:160388331..160389895,2	K562	blood:
7	chr4:160376717..160379347-chr4:160382890..160385287,2	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: 581 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:581 , 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	rs11947461	chr4:160374255-160374256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540010699	chr4:160374264-160374265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540807127	chr4:160374286-160374287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147561791	chr4:160374298-160374299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190792393	chr4:160374328-160374329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549768955	chr4:160374332-160374333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181863644	chr4:160374387-160374388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78491738	chr4:160374401-160374402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2699034	chr4:160374420-160374421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11938339	chr4:160374427-160374428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185089730	chr4:160374437-160374438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529680400	chr4:160374455-160374456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571718239	chr4:160374483-160374484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76101292	chr4:160374499-160374500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375662499	chr4:160374560-160374561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146072145	chr4:160374606-160374607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574069356	chr4:160374624-160374625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10034325	chr4:160374653-160374654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6536422	chr4:160374721-160374722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573414668	chr4:160374723-160374724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6536423	chr4:160374725-160374726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547060884	chr4:160374766-160374767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577682395	chr4:160374798-160374799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113265037	chr4:160374815-160374816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189559242	chr4:160374831-160374832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182583339	chr4:160374895-160374896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199727183	chr4:160374914-160374915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528856089	chr4:160374926-160374927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57931840	chr4:160374930-160374931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377295681	chr4:160374931-160374932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186410599	chr4:160374951-160374952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6536424	chr4:160374952-160374953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6536425	chr4:160374999-160375000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs2699022	chr4:160375031-160375032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2699021	chr4:160375036-160375037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371666406	chr4:160375142-160375143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372410108	chr4:160375143-160375144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531070727	chr4:160375157-160375158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2699020	chr4:160375185-160375186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191097612	chr4:160375192-160375193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183810330	chr4:160375197-160375198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188348722	chr4:160375212-160375213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573296339	chr4:160375215-160375216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567174242	chr4:160375286-160375287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538928552	chr4:160375295-160375296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540717251	chr4:160375320-160375321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377282941	chr4:160375336-160375337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559139453	chr4:160375352-160375353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77056641	chr4:160375365-160375366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72969751	chr4:160375366-160375367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:48 , 50 per page) page: 1

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	chr4:160373800-160386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:160374200-160374400	Weak transcription	NHDF-Ad	bronchial
5	chr4:160374400-160374600	Enhancers	NHDF-Ad	bronchial
6	chr4:160374600-160376600	Weak transcription	NHDF-Ad	bronchial
7	chr4:160374800-160377800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:160375000-160377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:160375800-160376200	Enhancers	A549	lung
10	chr4:160376200-160376800	Active TSS	Placenta	Placenta
11	chr4:160376200-160377200	Active TSS	A549	lung
12	chr4:160376600-160377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:160376600-160377200	Active TSS	HepG2	liver
14	chr4:160376600-160377200	Enhancers	NHDF-Ad	bronchial
15	chr4:160376600-160377600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:160376800-160377400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:160377000-160377200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:160377000-160377200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:160377000-160377200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:160377000-160377200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:160377000-160377200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:160377000-160377200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:160377000-160377200	Flanking Active TSS	NH-A	brain
24	chr4:160377000-160377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:160377000-160377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:160377000-160377400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:160377000-160377400	Enhancers	Fetal Lung	lung
28	chr4:160377000-160377400	Enhancers	HMEC	breast
29	chr4:160377000-160377400	Enhancers	HSMM	muscle
30	chr4:160377000-160377400	Enhancers	HUVEC	blood vessel
31	chr4:160377200-160377400	Flanking Active TSS	A549	lung
32	chr4:160377200-160377400	Flanking Active TSS	HepG2	liver
33	chr4:160377200-160377400	Active TSS	NH-A	brain
34	chr4:160377200-160386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:160377400-160377600	Weak transcription	Fetal Lung	lung
36	chr4:160377400-160377600	Enhancers	HepG2	liver
37	chr4:160377600-160378000	Enhancers	Fetal Lung	lung
38	chr4:160378000-160381400	Weak transcription	Fetal Lung	lung
39	chr4:160379200-160386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:160381400-160381800	Enhancers	Fetal Lung	lung
41	chr4:160381400-160382000	Enhancers	NHLF	lung
42	chr4:160381600-160382200	Enhancers	Fetal Stomach	stomach
43	chr4:160381600-160382400	Enhancers	Fetal Muscle Leg	muscle
44	chr4:160386200-160386600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:160386200-160386600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:160386200-160387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:160386800-160387000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:160387000-160389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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