Variant report

Variant	nsv879853
Chromosome Location	chr4:121292665-121513215
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:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:121309932..121311519-chr4:121313046..121315204,2	K562	blood:
2	chr4:121303352..121305526-chr4:121306861..121309621,3	K562	blood:
3	chr4:121309932..121311519-chr4:121313046..121315204,2	K562	blood:
4	chr4:121361067..121362763-chr4:121362852..121365271,2	MCF-7	breast:
5	chr2:162678536..162680855-chr4:121354549..121356105,2	MCF-7	breast:
6	chr4:121303352..121305526-chr4:121306861..121309621,3	K562	blood:
7	chr4:121396849..121398573-chr4:121700140..121702182,2	K562	blood:
8	chr4:121361067..121362763-chr4:121362852..121365271,2	MCF-7	breast:
9	chr4:121341832..121344209-chr4:121346289..121348125,2	K562	blood:
10	chr4:121341832..121344209-chr4:121346289..121348125,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-6	chr4:121337705-121337921	ENSG00000250938.1
2	lnc-AC110373.1-6	chr4:121314655-121314877	ENSG00000250938.1
3	lnc-AC110373.1-6	chr4:121314655-121314709	ENSG00000250938.1

No data

Extended variants
information (count: 4363 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4363 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577430403	chr4:121295200-121295201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13434556	chr4:121295224-121295225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11098561	chr4:121295241-121295242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376680906	chr4:121295261-121295262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368921184	chr4:121295279-121295280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72922161	chr4:121295298-121295299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548287388	chr4:121295387-121295388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181829403	chr4:121295390-121295391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185363392	chr4:121295399-121295400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561800483	chr4:121295421-121295422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530967613	chr4:121295423-121295424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28401665	chr4:121295467-121295468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189285686	chr4:121295477-121295478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181286130	chr4:121295503-121295504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186534499	chr4:121295509-121295510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551078662	chr4:121295590-121295591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570952438	chr4:121295592-121295593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552445306	chr4:121295619-121295620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191744200	chr4:121295628-121295629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551322256	chr4:121295640-121295641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138087340	chr4:121295657-121295658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62322903	chr4:121295678-121295679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369694828	chr4:121295705-121295706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149535604	chr4:121295724-121295725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113198675	chr4:121295732-121295733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28416465	chr4:121295738-121295739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552309481	chr4:121295750-121295751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565740787	chr4:121295763-121295764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576750332	chr4:121295774-121295775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534602991	chr4:121295778-121295779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181481488	chr4:121295786-121295787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28475386	chr4:121295799-121295800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573105498	chr4:121295830-121295831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186385315	chr4:121295838-121295839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190984454	chr4:121295840-121295841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183119859	chr4:121295912-121295913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186696009	chr4:121295940-121295941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201503977	chr4:121295957-121295958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559364994	chr4:121295960-121295961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564374854	chr4:121295961-121295962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143901153	chr4:121295980-121295981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573929524	chr4:121296034-121296035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183221279	chr4:121296113-121296114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11098562	chr4:121296151-121296152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548368962	chr4:121296178-121296179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567705148	chr4:121296224-121296225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568245171	chr4:121296232-121296233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535392695	chr4:121296253-121296254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188235069	chr4:121296266-121296267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6856851	chr4:121296270-121296271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121295200-121296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:121295200-121296200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:121295400-121296000	Enhancers	NHDF-Ad	bronchial
4	chr4:121295400-121296200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:121295600-121296000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:121295600-121296000	Enhancers	Adipose Nuclei	Adipose
7	chr4:121295600-121296200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:121295600-121296400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:121307200-121308400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:121307200-121308400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:121307600-121308000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:121310200-121310400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:121311600-121312400	Enhancers	Fetal Heart	heart
14	chr4:121314800-121315400	Enhancers	Osteobl	bone
15	chr4:121314800-121315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:121315000-121315600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:121317200-121317600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:121317600-121323200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:121318200-121318400	Enhancers	Fetal Lung	lung
20	chr4:121320600-121325200	Enhancers	Fetal Lung	lung
21	chr4:121323200-121323400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:121323400-121333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:121327400-121327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:121336600-121337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:121337400-121338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:121337800-121338800	Weak transcription	Gastric	stomach
27	chr4:121338400-121338600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:121338800-121339000	ZNF genes & repeats	Gastric	stomach
29	chr4:121339000-121339800	Enhancers	Fetal Heart	heart
30	chr4:121339600-121340200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:121343600-121344200	Enhancers	Fetal Lung	lung
32	chr4:121346600-121347000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:121351200-121351600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:121351200-121351800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:121351400-121351800	Enhancers	HepG2	liver
36	chr4:121353000-121354400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:121353400-121353800	Enhancers	Colon Smooth Muscle	Colon
38	chr4:121353400-121355000	Enhancers	Fetal Lung	lung
39	chr4:121353800-121354000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:121353800-121354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:121354000-121354200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:121354000-121354800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:121354200-121358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:121354800-121357000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:121355000-121362000	Weak transcription	Fetal Lung	lung
46	chr4:121355600-121356200	Enhancers	Brain Germinal Matrix	brain
47	chr4:121355800-121357000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:121356000-121356200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:121356000-121356600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:121356200-121356600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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