Variant report

Variant	nsv964280
Chromosome Location	chr4:128490982-128506981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128490719..128492998-chr4:128553129..128556082,2	K562	blood:
2	chr4:128486825..128490042-chr4:128490605..128492933,3	K562	blood:
3	chr4:128497413..128500074-chr4:128505896..128508169,2	MCF-7	breast:
4	chr4:128497413..128500074-chr4:128505896..128508169,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-9	chr4:128492862-128492960	l_2728_chr4:128237735-128492960_lung

Variant related genes	Relation type
ENSG00000164066	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565364751	chr4:128490993-128490994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10029304	chr4:128491017-128491018	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569661450	chr4:128491022-128491023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537191184	chr4:128491037-128491038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555270290	chr4:128491074-128491075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188439500	chr4:128491075-128491076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199789730	chr4:128491118-128491119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377514295	chr4:128491133-128491134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs33972531	chr4:128491152-128491153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534902641	chr4:128491172-128491173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553320708	chr4:128491181-128491182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28645236	chr4:128491226-128491227	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10029562	chr4:128491276-128491277	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370511506	chr4:128491295-128491296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71587323	chr4:128491306-128491307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79105668	chr4:128491334-128491335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79343096	chr4:128491335-128491336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34210487	chr4:128491336-128491337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs80303267	chr4:128491338-128491339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576453865	chr4:128491369-128491370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543922420	chr4:128491383-128491384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184335374	chr4:128491404-128491405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562126494	chr4:128491407-128491408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529461775	chr4:128491423-128491424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547744806	chr4:128491489-128491490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538752642	chr4:128491495-128491496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541296566	chr4:128491502-128491503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559621599	chr4:128491544-128491545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532726862	chr4:128491597-128491598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140294301	chr4:128491648-128491649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551979330	chr4:128491681-128491682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144246550	chr4:128491706-128491707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377323003	chr4:128491747-128491748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530499961	chr4:128491819-128491820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534475848	chr4:128491844-128491845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549098601	chr4:128491859-128491860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567436943	chr4:128491864-128491865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534836577	chr4:128491931-128491932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375000823	chr4:128491975-128491976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553259156	chr4:128491983-128491984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368384627	chr4:128492014-128492015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1983289	chr4:128492027-128492028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372570755	chr4:128492032-128492033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189159830	chr4:128492038-128492039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538968970	chr4:128492040-128492041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72681810	chr4:128492044-128492045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576415948	chr4:128492072-128492073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543516951	chr4:128492098-128492099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140226748	chr4:128492111-128492112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573848697	chr4:128492120-128492121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128495800-128496200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:128495800-128496200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:128495800-128496400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:128495800-128496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:128496800-128497400	Enhancers	Ovary	ovary
6	chr4:128497000-128497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:128497200-128497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:128498000-128498200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:128498600-128498800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:128500800-128501200	Enhancers	K562	blood
11	chr4:128500800-128501400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:128501000-128501200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:128501200-128503000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:128501600-128502400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:128502800-128503600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:128503000-128503200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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