Variant report

Variant	nsv1028244
Chromosome Location	chr4:160370159-160395135
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	chr4:160362877..160365543-chr4:160372401..160374638,2	K562	blood:
2	chr4:159181271..159181780-chr4:160376201..160377009,2	K562	blood:
3	chr4:160376473..160377125-chr4:160404962..160405573,2	MCF-7	breast:
4	chr4:160376717..160379347-chr4:160382890..160385287,2	K562	blood:
5	chr4:160376717..160379347-chr4:160382890..160385287,2	K562	blood:
6	chr4:160384599..160386865-chr4:160388331..160389895,2	K562	blood:
7	chr4:160384599..160386865-chr4:160388331..160389895,2	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: 1013 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28793868	chr4:160370241-160370242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542281427	chr4:160370245-160370246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113437992	chr4:160370279-160370280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7681192	chr4:160370283-160370284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148497922	chr4:160370286-160370287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11939891	chr4:160370293-160370294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549502477	chr4:160370303-160370304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2699002	chr4:160370346-160370347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567311235	chr4:160370362-160370363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536775432	chr4:160370384-160370385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547093427	chr4:160370427-160370428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188822464	chr4:160370433-160370434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72701257	chr4:160370436-160370437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2699001	chr4:160370480-160370481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181251732	chr4:160370491-160370492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140136283	chr4:160370524-160370525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200475599	chr4:160370574-160370575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561685539	chr4:160370580-160370581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56373036	chr4:160370581-160370582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186283478	chr4:160370597-160370598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190071696	chr4:160370610-160370611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552649044	chr4:160370616-160370617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113680361	chr4:160370648-160370649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182177535	chr4:160370656-160370657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56098314	chr4:160370726-160370727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564695972	chr4:160370781-160370782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4610291	chr4:160370791-160370792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9799412	chr4:160370823-160370824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs59843932	chr4:160370831-160370832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561093023	chr4:160370849-160370850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191884016	chr4:160370855-160370856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547154823	chr4:160370876-160370877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202010903	chr4:160370904-160370905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144414651	chr4:160370910-160370911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199526547	chr4:160370911-160370912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566978582	chr4:160370914-160370915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532604980	chr4:160370929-160370930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536342095	chr4:160370968-160370969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182309327	chr4:160370977-160370978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552563880	chr4:160371010-160371011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56344662	chr4:160371018-160371019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs57160013	chr4:160371030-160371031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs9714613	chr4:160371031-160371032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568364774	chr4:160371074-160371075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534119087	chr4:160371091-160371092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553910073	chr4:160371119-160371120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201407837	chr4:160371155-160371156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572623892	chr4:160371195-160371196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200719697	chr4:160371204-160371205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558555091	chr4:160371251-160371252	Weak transcription	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:54 , 50 per page) page: 1 2

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

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