Variant report

Variant	nsv537244
Chromosome Location	chr4:127561735-127726291
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:156)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:156 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr4:127724830..127727787-chr4:127727865..127729451,2	K562	blood:
2	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:
3	chr4:127587813..127589490-chr4:127637912..127640356,2	K562	blood:
4	chr4:127659055..127662834-chr4:127664504..127669791,5	K562	blood:
5	chr4:127620374..127622930-chr4:127624582..127626551,2	K562	blood:
6	chr4:127656785..127658564-chr4:127670907..127672656,2	K562	blood:
7	chr4:127687681..127689418-chr4:127698728..127701287,2	K562	blood:
8	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
9	chr4:127662026..127664437-chr4:127681232..127683698,2	K562	blood:
10	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
11	chr4:127620374..127622930-chr4:127624582..127626551,2	K562	blood:
12	chr4:127605123..127609029-chr4:127609783..127616585,6	K562	blood:
13	chr4:127654777..127657151-chr4:127876043..127879204,4	K562	blood:
14	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
15	chr4:127667569..127669077-chr4:127671156..127673046,2	K562	blood:
16	chr4:127672554..127674292-chr4:127695286..127696943,2	K562	blood:
17	chr4:127621513..127624552-chr4:127627027..127630786,3	K562	blood:
18	chr4:127639635..127641216-chr4:127646966..127649464,2	K562	blood:
19	chr4:127606260..127608427-chr4:127694328..127697298,2	K562	blood:
20	chr4:127694347..127698453-chr4:127713165..127717264,5	K562	blood:
21	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
22	chr4:127571128..127573316-chr4:127581338..127584055,2	K562	blood:
23	chr4:127649446..127654981-chr4:127658045..127662615,6	K562	blood:
24	chr4:127568487..127570733-chr4:127580195..127582712,2	K562	blood:
25	chr4:127640714..127642968-chr4:127649677..127651591,2	K562	blood:
26	chr4:127662026..127664437-chr4:127681232..127683698,2	K562	blood:
27	chr4:127657779..127661019-chr4:127875846..127879215,3	K562	blood:
28	chr4:127619348..127621154-chr4:127636708..127638290,2	K562	blood:
29	chr4:127652170..127654874-chr4:127875964..127880032,4	K562	blood:
30	chr4:127676639..127678902-chr4:127680552..127682952,2	K562	blood:
31	chr4:127609056..127611061-chr4:127617103..127618757,2	K562	blood:
32	chr4:127654180..127658212-chr4:127693803..127700290,9	K562	blood:
33	chr4:127675932..127677470-chr4:127709350..127712116,2	K562	blood:
34	chr4:127580213..127582009-chr4:127585338..127587465,3	K562	blood:
35	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
36	chr4:127621500..127623013-chr4:127629286..127631384,2	K562	blood:
37	chr4:127606260..127608427-chr4:127694328..127697298,2	K562	blood:
38	chr4:127642487..127645698-chr4:127876053..127878799,3	K562	blood:
39	chr4:127661132..127664302-chr4:127673229..127676858,3	K562	blood:
40	chr4:127663543..127666965-chr4:127667854..127672679,5	K562	blood:
41	chr4:127628211..127630897-chr4:127699416..127701200,2	K562	blood:
42	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
43	chr4:127612492..127613409-chr4:128321583..128322156,2	MCF-7	breast:
44	chr4:127629211..127631287-chr4:127641916..127644046,2	K562	blood:
45	chr4:127696264..127698678-chr4:127874695..127876616,2	K562	blood:
46	chr4:127621500..127623013-chr4:127629286..127631384,2	K562	blood:
47	chr4:127638974..127640928-chr4:127641015..127644597,3	K562	blood:
48	chr4:127599658..127603060-chr4:127607594..127612436,4	K562	blood:
49	chr4:127654312..127657271-chr4:127664785..127667908,3	K562	blood:
50	chr4:127599658..127603060-chr4:127607594..127612436,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 6076 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:6076 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558163064	chr4:127561754-127561755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140437855	chr4:127561786-127561787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578259565	chr4:127561795-127561796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78902101	chr4:127561796-127561797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560164773	chr4:127561861-127561862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376416518	chr4:127561884-127561885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150393456	chr4:127561918-127561919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567736196	chr4:127561919-127561920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535140002	chr4:127561922-127561923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138771032	chr4:127561923-127561924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79498341	chr4:127561928-127561929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72921473	chr4:127561942-127561943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557760597	chr4:127561974-127561975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562631005	chr4:127562003-127562004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576312336	chr4:127562041-127562042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543223052	chr4:127562072-127562073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75631966	chr4:127562078-127562079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573358402	chr4:127562091-127562092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28386846	chr4:127562109-127562110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79955223	chr4:127562118-127562119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398064018	chr4:127562120-127562121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559068349	chr4:127562138-127562139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532756596	chr4:127562204-127562205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374276037	chr4:127562213-127562214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563808115	chr4:127562225-127562226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368241590	chr4:127562257-127562258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72921474	chr4:127562272-127562273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564747618	chr4:127562336-127562337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549276115	chr4:127562360-127562361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140370075	chr4:127562427-127562428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs313045	chr4:127562447-127562448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191553076	chr4:127562491-127562492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547308766	chr4:127562506-127562507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145464106	chr4:127562521-127562522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538642647	chr4:127562557-127562558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557345366	chr4:127562558-127562559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs313044	chr4:127562602-127562603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537357584	chr4:127562662-127562663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184073439	chr4:127562666-127562667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573496487	chr4:127562691-127562692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534546877	chr4:127562787-127562788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552632858	chr4:127562807-127562808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188750000	chr4:127562834-127562835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577346486	chr4:127562863-127562864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544651815	chr4:127562911-127562912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117467449	chr4:127562916-127562917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575807921	chr4:127562920-127562921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543309856	chr4:127562940-127562941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181530223	chr4:127562956-127562957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528689893	chr4:127562966-127562967	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127554400-127564600	Weak transcription	K562	blood
2	chr4:127564600-127566000	Strong transcription	K562	blood
3	chr4:127566000-127568600	Weak transcription	K562	blood
4	chr4:127568400-127569400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:127568600-127569600	Strong transcription	K562	blood
6	chr4:127568800-127569200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:127568800-127569400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:127568800-127570000	Enhancers	Fetal Lung	lung
9	chr4:127569600-127573800	Weak transcription	K562	blood
10	chr4:127573800-127574600	Strong transcription	K562	blood
11	chr4:127574600-127582400	Weak transcription	K562	blood
12	chr4:127574800-127575800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:127575800-127578400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:127578400-127581000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:127578600-127578800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:127578800-127579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:127579400-127580000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:127579400-127580200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:127579600-127580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:127579800-127583200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:127580200-127582400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:127581400-127583400	Enhancers	Fetal Heart	heart
23	chr4:127582200-127583000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:127582400-127582600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:127582400-127582800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:127582400-127582800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:127582400-127583200	Enhancers	K562	blood
28	chr4:127583200-127584200	Weak transcription	K562	blood
29	chr4:127584200-127584600	Enhancers	K562	blood
30	chr4:127584600-127585600	Weak transcription	K562	blood
31	chr4:127585600-127586800	Enhancers	K562	blood
32	chr4:127586800-127608800	Weak transcription	K562	blood
33	chr4:127598400-127599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:127598600-127599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:127599000-127600000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:127599400-127599800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:127600000-127600400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:127600200-127601800	Enhancers	Fetal Lung	lung
39	chr4:127601800-127603400	Weak transcription	Fetal Lung	lung
40	chr4:127603400-127605600	Enhancers	Fetal Lung	lung
41	chr4:127605600-127607000	Weak transcription	Fetal Lung	lung
42	chr4:127607000-127607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:127607000-127608000	Enhancers	Fetal Lung	lung
44	chr4:127607400-127608600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:127608000-127608400	Weak transcription	Fetal Lung	lung
46	chr4:127608400-127611200	Enhancers	Fetal Lung	lung
47	chr4:127608600-127609400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:127608600-127610000	Enhancers	Fetal Brain Male	brain
49	chr4:127608600-127610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:127608800-127609400	Enhancers	NHDF-Ad	bronchial

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