Variant report

Variant	nsv879882
Chromosome Location	chr4:125662969-125703938
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:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125673858..125676669-chr4:125678451..125680331,2	K562	blood:
2	chr4:125631232..125634109-chr4:125665625..125667301,2	K562	blood:
3	chr4:125632600..125635495-chr4:125669372..125672069,2	MCF-7	breast:
4	chr4:125680039..125682275-chr4:125687105..125688852,2	K562	blood:
5	chr4:125630101..125632893-chr4:125662563..125664427,2	K562	blood:
6	chr4:125661056..125663269-chr4:125667506..125669833,2	MCF-7	breast:
7	chr4:125661056..125663269-chr4:125667506..125669833,2	MCF-7	breast:
8	chr4:125680039..125682275-chr4:125687105..125688852,2	K562	blood:
9	chr4:125642176..125644538-chr4:125687368..125689937,2	MCF-7	breast:
10	chr4:125673858..125676669-chr4:125678451..125680331,2	K562	blood:
11	chr4:125702474..125705309-chr4:125716481..125718670,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-7	chr4:125684272-125684315	ucscGeneNc_uc003ife_1
2	lnc-ANKRD50-7	chr4:125698985-125699039	ucscGeneNc_uc003ife_1
3	lnc-ANKRD50-7	chr4:125680931-125680990	ucscGeneNc_uc003ife_1
4	lnc-ANKRD50-7	chr4:125674825-125674853	ucscGeneNc_uc003ife_1
5	lnc-ANKRD50-7	chr4:125697041-125697115	ucscGeneNc_uc003ife_1

No data

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1182 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1498016	chr4:125662969-125662970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567054648	chr4:125662983-125662984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560823074	chr4:125662984-125662985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72680287	chr4:125663017-125663018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576461059	chr4:125663041-125663042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546627218	chr4:125663046-125663047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571302308	chr4:125663048-125663049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56236581	chr4:125663054-125663055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72680288	chr4:125663097-125663098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550754798	chr4:125663141-125663142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368016806	chr4:125663153-125663154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569447337	chr4:125663207-125663208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536416073	chr4:125663219-125663220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534356295	chr4:125663230-125663231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555177690	chr4:125663245-125663246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567206227	chr4:125663255-125663256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116061658	chr4:125663294-125663295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187239492	chr4:125663320-125663321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577520122	chr4:125663328-125663329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545098959	chr4:125663332-125663333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556749150	chr4:125663337-125663338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1498015	chr4:125663344-125663345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191909163	chr4:125663384-125663385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542444669	chr4:125663438-125663439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573453234	chr4:125663444-125663445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560736572	chr4:125663457-125663458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11724383	chr4:125663459-125663460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140373461	chr4:125663523-125663524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555955093	chr4:125663564-125663565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575822048	chr4:125663592-125663593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116849364	chr4:125663597-125663598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144099141	chr4:125663609-125663610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564549733	chr4:125663653-125663654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569279507	chr4:125663677-125663678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530194057	chr4:125663750-125663751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548840219	chr4:125663756-125663757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183133390	chr4:125663757-125663758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146500276	chr4:125663794-125663795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565387537	chr4:125663833-125663834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552864589	chr4:125663836-125663837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113717845	chr4:125663844-125663845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13127283	chr4:125663942-125663943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546324465	chr4:125663947-125663948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10023917	chr4:125663949-125663950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556897355	chr4:125663963-125663964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140820812	chr4:125663985-125663986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10024126	chr4:125663998-125663999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187504663	chr4:125664019-125664020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535936664	chr4:125664084-125664085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150121386	chr4:125664118-125664119	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	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125661200-125663000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:125662000-125664200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:125662200-125663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:125663000-125663200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:125663400-125663600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:125664200-125664400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:125666000-125666200	Enhancers	Fetal Heart	heart
8	chr4:125666200-125667200	Weak transcription	Fetal Heart	heart
9	chr4:125666600-125667000	Enhancers	Ovary	ovary
10	chr4:125666800-125667200	Enhancers	Fetal Lung	lung
11	chr4:125667000-125667200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:125667000-125667400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:125667200-125667400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:125667200-125667400	Active TSS	Adipose Nuclei	Adipose
15	chr4:125667200-125667400	Enhancers	Colon Smooth Muscle	Colon
16	chr4:125667200-125667400	Enhancers	Stomach Smooth Muscle	stomach
17	chr4:125667200-125667800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:125667200-125667800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:125667200-125667800	Flanking Active TSS	Fetal Lung	lung
20	chr4:125667200-125667800	Enhancers	Fetal Stomach	stomach
21	chr4:125667200-125668000	Enhancers	Fetal Heart	heart
22	chr4:125667200-125668000	Active TSS	Ovary	ovary
23	chr4:125667200-125668000	Active TSS	Right Atrium	heart
24	chr4:125667400-125667800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr4:125667400-125667800	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr4:125667400-125667800	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:125667400-125667800	Enhancers	NHLF	lung
28	chr4:125667400-125667800	Active TSS	Osteobl	bone
29	chr4:125667400-125668000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:125667400-125668000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:125667400-125668000	Active TSS	Aorta	Aorta
32	chr4:125667400-125668400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:125667800-125668000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:125667800-125668400	Enhancers	Adipose Nuclei	Adipose
35	chr4:125667800-125668600	Enhancers	Colon Smooth Muscle	Colon
36	chr4:125667800-125670000	Enhancers	Fetal Lung	lung
37	chr4:125668000-125668400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:125668000-125668400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:125668000-125668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:125668000-125672000	Weak transcription	Aorta	Aorta
41	chr4:125668400-125668800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:125670000-125671000	Weak transcription	Fetal Lung	lung
43	chr4:125671000-125671400	Enhancers	Fetal Lung	lung
44	chr4:125674800-125676000	Enhancers	Liver	Liver
45	chr4:125675000-125676400	Enhancers	NHDF-Ad	bronchial
46	chr4:125675000-125676800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:125675200-125675600	Enhancers	Ovary	ovary
48	chr4:125675200-125675600	Enhancers	Pancreas	Pancrea
49	chr4:125675200-125676400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:125675200-125676400	Enhancers	NHLF	lung

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