Variant report

Variant	nsv879889
Chromosome Location	chr4:125816783-125853748
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
2	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
3	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
4	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
5	chr4:125632317..125635750-chr4:125823538..125828224,6	MCF-7	breast:
6	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
7	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
8	chr4:125631876..125635862-chr4:125822303..125828252,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1567 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1120767	chr4:125816783-125816784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531722493	chr4:125816799-125816800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11734989	chr4:125816839-125816840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148252313	chr4:125816849-125816850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11726687	chr4:125816854-125816855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569543165	chr4:125816869-125816870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202062672	chr4:125816879-125816880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536045731	chr4:125816894-125816895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6826258	chr4:125816922-125816923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566373356	chr4:125816927-125816928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540103782	chr4:125817009-125817010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140261857	chr4:125817019-125817020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150326240	chr4:125817024-125817025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537972272	chr4:125817026-125817027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556281868	chr4:125817027-125817028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372208317	chr4:125817037-125817038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574590432	chr4:125817042-125817043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542007150	chr4:125817045-125817046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386679253	chr4:125817121-125817122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12650300	chr4:125817123-125817124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs182312958	chr4:125817139-125817140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72918671	chr4:125817188-125817189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552295941	chr4:125817225-125817226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76656245	chr4:125817240-125817241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73845820	chr4:125817293-125817294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369462176	chr4:125817337-125817338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10030199	chr4:125817339-125817340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs10030273	chr4:125817395-125817396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186680002	chr4:125817433-125817434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566112378	chr4:125817435-125817436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540164727	chr4:125817445-125817446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202142840	chr4:125817464-125817465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369468426	chr4:125817467-125817468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11945908	chr4:125817486-125817487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72685818	chr4:125817510-125817511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537835143	chr4:125817512-125817513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555837269	chr4:125817559-125817560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568155077	chr4:125817582-125817583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545467545	chr4:125817583-125817584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184188884	chr4:125817596-125817597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138250012	chr4:125817599-125817600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547567053	chr4:125817604-125817605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188697646	chr4:125817615-125817616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571896523	chr4:125817617-125817618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545735464	chr4:125817629-125817630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557630509	chr4:125817634-125817635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575887153	chr4:125817662-125817663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369018501	chr4:125817670-125817671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543423692	chr4:125817687-125817688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561900588	chr4:125817694-125817695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Myelodysplastic syndrome	21251322	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
Acute promyelocytic leukemia	19109227	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125798200-125820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125820800-125821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:125820800-125821600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:125820800-125821600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:125820800-125821600	Enhancers	HMEC	breast
6	chr4:125820800-125822000	Enhancers	NHEK	skin
7	chr4:125821200-125821400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:125821600-125824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:125821600-125824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:125821600-125824800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:125821600-125824800	Weak transcription	HMEC	breast
12	chr4:125822000-125822800	Enhancers	Fetal Kidney	kidney
13	chr4:125822000-125824800	Weak transcription	NHEK	skin
14	chr4:125822400-125824800	Enhancers	Hela-S3	cervix
15	chr4:125822600-125823800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:125822800-125823400	Weak transcription	Fetal Kidney	kidney
17	chr4:125822800-125824200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:125823200-125823800	Enhancers	Fetal Muscle Leg	muscle
19	chr4:125823200-125824000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:125823200-125824800	Enhancers	Fetal Heart	heart
21	chr4:125823200-125824800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:125823400-125823600	Enhancers	Colon Smooth Muscle	Colon
23	chr4:125823400-125823600	Enhancers	Fetal Kidney	kidney
24	chr4:125823400-125823600	Enhancers	Fetal Stomach	stomach
25	chr4:125823400-125823800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:125823400-125823800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:125823400-125823800	Enhancers	Psoas Muscle	Psoas
28	chr4:125823400-125823800	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:125823400-125824000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:125823400-125824200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:125823400-125824200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:125823400-125824800	Enhancers	HSMMtube	muscle
33	chr4:125823400-125825800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:125823600-125823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:125823600-125823800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:125823600-125823800	Enhancers	Fetal Lung	lung
37	chr4:125823600-125823800	Enhancers	Pancreas	Pancrea
38	chr4:125823600-125824200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:125823600-125824200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:125823600-125824800	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:125823600-125824800	Weak transcription	Fetal Kidney	kidney
42	chr4:125823800-125824800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:125823800-125824800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:125823800-125824800	Weak transcription	Fetal Lung	lung
45	chr4:125823800-125824800	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:125823800-125824800	Weak transcription	Fetal Stomach	stomach
47	chr4:125823800-125824800	Weak transcription	Psoas Muscle	Psoas
48	chr4:125823800-125825000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:125823800-125825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:125823800-125825000	Weak transcription	Rectal Smooth Muscle	rectum

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