Variant report

Variant	nsv595380
Chromosome Location	chr4:125265313-125336932
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:1)
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	chr4:125262577..125264449-chr4:125267613..125270561,2	MCF-7	breast:
2	chr4:125270411..125272059-chr4:125632201..125634869,2	MCF-7	breast:
3	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:
4	chr4:125278115..125279744-chr7:124830556..124832056,2	MCF-7	breast:
5	chr4:125299143..125301213-chr4:125631777..125634720,2	MCF-7	breast:
6	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:
7	chr4:125331266..125334287-chr4:125337725..125339948,3	MCF-7	breast:
8	chr4:125332025..125334312-chr4:125349004..125351907,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-2	chr4:125298864-125299036	XLOC_004063

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1127 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2125000	chr4:125265313-125265314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs17008065	chr4:125265324-125265325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537375833	chr4:125265376-125265377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181836393	chr4:125265383-125265384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150984343	chr4:125265391-125265392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs656818	chr4:125265485-125265486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544923715	chr4:125265511-125265512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539286665	chr4:125265554-125265555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560297898	chr4:125265602-125265603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139493481	chr4:125265607-125265608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546400173	chr4:125265749-125265750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564591995	chr4:125265775-125265776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532043371	chr4:125265840-125265841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550263513	chr4:125265856-125265857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186101989	chr4:125265868-125265869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188905699	chr4:125265899-125265900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548336316	chr4:125265906-125265907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566647053	chr4:125265908-125265909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533944886	chr4:125265924-125265925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368110489	chr4:125265931-125265932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72676668	chr4:125265991-125265992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs72676669	chr4:125266051-125266052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542898863	chr4:125266057-125266058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62322008	chr4:125266076-125266077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556274535	chr4:125266125-125266126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149696804	chr4:125266134-125266135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116360397	chr4:125266147-125266148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35695734	chr4:125266162-125266163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116770121	chr4:125266191-125266192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114998049	chr4:125266248-125266249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59131282	chr4:125266432-125266433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs55912891	chr4:125266434-125266435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544132758	chr4:125266454-125266455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147763874	chr4:125266460-125266461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572951	chr4:125266508-125266509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372511121	chr4:125266534-125266535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374158594	chr4:125266560-125266561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181792578	chr4:125266572-125266573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560253758	chr4:125266620-125266621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62322009	chr4:125266655-125266656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368769820	chr4:125266660-125266661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533664444	chr4:125266662-125266663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186526685	chr4:125266679-125266680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141162515	chr4:125266691-125266692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147111832	chr4:125266756-125266757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550078485	chr4:125266759-125266760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114294897	chr4:125266761-125266762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs672858	chr4:125266797-125266798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs62322010	chr4:125266835-125266836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17828136	chr4:125266844-125266845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125260400-125272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125264400-125265400	Enhancers	NHDF-Ad	bronchial
3	chr4:125265200-125265400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:125271800-125272800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:125281200-125284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:125282400-125282600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:125294600-125294800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:125294800-125295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:125295600-125296000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:125296000-125296200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:125304000-125305000	Enhancers	Fetal Lung	lung
12	chr4:125307000-125308200	Enhancers	Colon Smooth Muscle	Colon
13	chr4:125307200-125307600	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:125307400-125308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:125310400-125312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:125310400-125312400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:125310400-125312400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:125310800-125311800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:125311000-125311800	Enhancers	NHEK	skin
20	chr4:125311600-125312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:125311600-125312400	Enhancers	Fetal Lung	lung
22	chr4:125320400-125321000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:125320400-125321200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:125320400-125321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:125320800-125321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:125322600-125323600	Enhancers	HUVEC	blood vessel
27	chr4:125329600-125332000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:125329800-125330000	Enhancers	A549	lung
29	chr4:125329800-125330400	Enhancers	Osteobl	bone
30	chr4:125330000-125330200	Enhancers	Colon Smooth Muscle	Colon
31	chr4:125330000-125330400	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:125330000-125330400	Flanking Active TSS	A549	lung
33	chr4:125330000-125330600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:125330000-125331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:125330000-125331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:125330000-125331800	Enhancers	NHDF-Ad	bronchial
37	chr4:125330200-125330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:125330200-125330600	Enhancers	NHLF	lung
39	chr4:125330200-125331000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:125330200-125331200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:125330400-125330600	Active TSS	A549	lung
42	chr4:125330400-125331400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:125330400-125334800	Weak transcription	Osteobl	bone
44	chr4:125330600-125331400	Weak transcription	A549	lung
45	chr4:125330600-125335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:125330600-125335000	Weak transcription	NHLF	lung
47	chr4:125330600-125336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:125331000-125335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:125331000-125335400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:125331200-125331600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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