Variant report

Variant	nsv4500
Chromosome Location	chr4:125291643-125337271
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:
2	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:
3	chr4:125299143..125301213-chr4:125631777..125634720,2	MCF-7	breast:
4	chr4:125332025..125334312-chr4:125349004..125351907,3	MCF-7	breast:
5	chr4:125331266..125334287-chr4:125337725..125339948,3	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: 713 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6834326	chr4:125294625-125294626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537646229	chr4:125294626-125294627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200592397	chr4:125294628-125294629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555968838	chr4:125294637-125294638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574374076	chr4:125294651-125294652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147061622	chr4:125294688-125294689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531453691	chr4:125294712-125294713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551407353	chr4:125294716-125294717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553801785	chr4:125294717-125294718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572355642	chr4:125294733-125294734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73845331	chr4:125294736-125294737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138183495	chr4:125294748-125294749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371285133	chr4:125294778-125294779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191719027	chr4:125294794-125294795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149592585	chr4:125294796-125294797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529486353	chr4:125294854-125294855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184129965	chr4:125294943-125294944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559806135	chr4:125294951-125294952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527271518	chr4:125294963-125294964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549812380	chr4:125294995-125294996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564735445	chr4:125295025-125295026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115103400	chr4:125295037-125295038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189829270	chr4:125295048-125295049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144218350	chr4:125295060-125295061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549481085	chr4:125295112-125295113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148724413	chr4:125295113-125295114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142648198	chr4:125295118-125295119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192427766	chr4:125295202-125295203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146041767	chr4:125295237-125295238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3065891	chr4:125295265-125295266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140821514	chr4:125295270-125295271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59451544	chr4:125295271-125295272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2390680	chr4:125295272-125295273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2390681	chr4:125295273-125295274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2390682	chr4:125295274-125295275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2390683	chr4:125295275-125295276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2893085	chr4:125295276-125295277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565874032	chr4:125295290-125295291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72919176	chr4:125295354-125295355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558219432	chr4:125295358-125295359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576524295	chr4:125295360-125295361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543910193	chr4:125295364-125295365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374656061	chr4:125295392-125295393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4833978	chr4:125295432-125295433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs541305269	chr4:125295442-125295443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143323640	chr4:125295451-125295452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533483505	chr4:125295456-125295457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545377741	chr4:125295505-125295506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563703633	chr4:125295532-125295533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531227377	chr4:125295540-125295541	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
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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125294600-125294800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:125294800-125295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:125295600-125296000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:125296000-125296200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:125304000-125305000	Enhancers	Fetal Lung	lung
6	chr4:125307000-125308200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:125307200-125307600	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:125307400-125308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:125310400-125312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:125310400-125312400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:125310400-125312400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:125310800-125311800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:125311000-125311800	Enhancers	NHEK	skin
14	chr4:125311600-125312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:125311600-125312400	Enhancers	Fetal Lung	lung
16	chr4:125320400-125321000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:125320400-125321200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:125320400-125321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:125320800-125321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:125322600-125323600	Enhancers	HUVEC	blood vessel
21	chr4:125329600-125332000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:125329800-125330000	Enhancers	A549	lung
23	chr4:125329800-125330400	Enhancers	Osteobl	bone
24	chr4:125330000-125330200	Enhancers	Colon Smooth Muscle	Colon
25	chr4:125330000-125330400	Enhancers	Rectal Smooth Muscle	rectum
26	chr4:125330000-125330400	Flanking Active TSS	A549	lung
27	chr4:125330000-125330600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr4:125330000-125331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:125330000-125331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:125330000-125331800	Enhancers	NHDF-Ad	bronchial
31	chr4:125330200-125330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:125330200-125330600	Enhancers	NHLF	lung
33	chr4:125330200-125331000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:125330200-125331200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:125330400-125330600	Active TSS	A549	lung
36	chr4:125330400-125331400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:125330400-125334800	Weak transcription	Osteobl	bone
38	chr4:125330600-125331400	Weak transcription	A549	lung
39	chr4:125330600-125335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:125330600-125335000	Weak transcription	NHLF	lung
41	chr4:125330600-125336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:125331000-125335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:125331000-125335400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:125331200-125331600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:125331200-125332200	Enhancers	Colon Smooth Muscle	Colon
46	chr4:125331400-125331800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:125331400-125332000	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:125331400-125332000	Enhancers	A549	lung
49	chr4:125331600-125333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:125331600-125341000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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