Variant report

Variant	nsv4329
Chromosome Location	chr4:48254113-48262973
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48257479..48259057-chr4:48261577..48263259,2	MCF-7	breast:
2	chr4:48255487..48257034-chr4:48270351..48271892,2	K562	blood:
3	chr4:48248411..48250691-chr4:48255149..48257827,3	K562	blood:
4	chr4:48262092..48265166-chr4:48265573..48268015,3	K562	blood:
5	chr4:48231874..48234490-chr4:48252410..48255133,2	K562	blood:
6	chr4:48256167..48259627-chr4:48260322..48264297,6	K562	blood:
7	chr4:48253624..48256243-chr4:48267800..48270613,3	MCF-7	breast:
8	chr4:48260906..48263782-chr4:48270701..48273043,3	K562	blood:
9	chr4:48253065..48255231-chr4:48264308..48266240,2	K562	blood:
10	chr4:48260906..48263782-chr4:48270701..48272361,2	K562	blood:
11	chr4:48175041..48176757-chr4:48255815..48257585,2	K562	blood:
12	chr4:48255521..48259627-chr4:48261501..48267509,10	K562	blood:
13	chr4:48257479..48259057-chr4:48261577..48263259,2	MCF-7	breast:
14	chr4:48255711..48257883-chr4:48270489..48272038,2	MCF-7	breast:
15	chr4:48259486..48261205-chr4:48485167..48487157,2	K562	blood:
16	chr4:48255045..48260439-chr4:48268334..48274456,6	K562	blood:
17	chr4:48258706..48261232-chr4:48269979..48272552,2	MCF-7	breast:
18	chr4:48255521..48259627-chr4:48261501..48267509,10	K562	blood:
19	chr4:48251770..48253352-chr4:48260141..48262130,2	K562	blood:
20	chr4:48256167..48259627-chr4:48260322..48264297,6	K562	blood:
21	chr4:48214281..48216760-chr4:48261228..48263562,2	K562	blood:
22	chr4:48251827..48254565-chr4:48270153..48272053,2	K562	blood:
23	chr4:48250701..48254731-chr4:48255352..48259390,5	K562	blood:
24	chr4:48250701..48254731-chr4:48255352..48259390,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145248	chromatin interactions
ENSG00000135605	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575987685	chr4:48254148-48254149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554033724	chr4:48254204-48254205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543378111	chr4:48254232-48254233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10014883	chr4:48254243-48254244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528957488	chr4:48254266-48254267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146171404	chr4:48254311-48254312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377236897	chr4:48254320-48254321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542446637	chr4:48254323-48254324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560716992	chr4:48254335-48254336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545856911	chr4:48254411-48254412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527879533	chr4:48254417-48254418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181484384	chr4:48254443-48254444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571102031	chr4:48254502-48254503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531627866	chr4:48254532-48254533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531575756	chr4:48254549-48254550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543496490	chr4:48254558-48254559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568223100	chr4:48254614-48254615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149523188	chr4:48254659-48254660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547480983	chr4:48254675-48254676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562789268	chr4:48254737-48254738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565777509	chr4:48254771-48254772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539604524	chr4:48254820-48254821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148661937	chr4:48254825-48254826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557789348	chr4:48254852-48254853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529904842	chr4:48254919-48254920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576252984	chr4:48254986-48254987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184981079	chr4:48255016-48255017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555357079	chr4:48255028-48255029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7669018	chr4:48255056-48255057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541169942	chr4:48255116-48255117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143548410	chr4:48255128-48255129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369678226	chr4:48255131-48255132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11727166	chr4:48255189-48255190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10006371	chr4:48255215-48255216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369992948	chr4:48255298-48255299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546348640	chr4:48255323-48255324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564637640	chr4:48255391-48255392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564403581	chr4:48255405-48255406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35103777	chr4:48255418-48255419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190272348	chr4:48255547-48255548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561792342	chr4:48255579-48255580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34702593	chr4:48255589-48255590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75536402	chr4:48255607-48255608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181878627	chr4:48255619-48255620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547519157	chr4:48255626-48255627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566142209	chr4:48255689-48255690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539273851	chr4:48255694-48255695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2352597	chr4:48255707-48255708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569856072	chr4:48255793-48255794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10805167	chr4:48255819-48255820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48249600-48261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:48249800-48254200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:48249800-48255800	Weak transcription	NHDF-Ad	bronchial
6	chr4:48250200-48254600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:48250400-48254400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:48250600-48255800	Weak transcription	Left Ventricle	heart
9	chr4:48250600-48259400	Weak transcription	Small Intestine	intestine
10	chr4:48251000-48256000	Weak transcription	Liver	Liver
11	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:48252600-48255200	Weak transcription	Fetal Lung	lung
14	chr4:48252600-48258200	Enhancers	Fetal Heart	heart
15	chr4:48253000-48263000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:48253200-48257400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48253400-48254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:48253400-48255000	Enhancers	K562	blood
19	chr4:48254000-48254600	Enhancers	GM12878-XiMat	blood
20	chr4:48254000-48254800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:48254200-48254400	Enhancers	Brain Germinal Matrix	brain
22	chr4:48254200-48255200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:48254400-48254600	Enhancers	Lung	lung
24	chr4:48254400-48255400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:48254400-48255400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:48254600-48255000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:48254600-48256200	Weak transcription	Lung	lung
28	chr4:48254600-48256800	Weak transcription	GM12878-XiMat	blood
29	chr4:48254800-48256200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:48254800-48256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:48254800-48256400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:48254800-48257600	Weak transcription	NHEK	skin
33	chr4:48254800-48257800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:48255000-48256000	Weak transcription	K562	blood
35	chr4:48255200-48255600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:48255200-48255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:48255200-48258000	Enhancers	Fetal Lung	lung
38	chr4:48255400-48257400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:48255400-48257400	Enhancers	Brain Germinal Matrix	brain
40	chr4:48255600-48257400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:48255600-48257800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:48255800-48257000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:48255800-48257200	Enhancers	NHLF	lung
44	chr4:48255800-48257400	Enhancers	NHDF-Ad	bronchial
45	chr4:48255800-48258400	Enhancers	Left Ventricle	heart
46	chr4:48256000-48256600	Enhancers	K562	blood
47	chr4:48256000-48256800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:48256000-48257000	Enhancers	HSMM	muscle
49	chr4:48256000-48257000	Enhancers	HSMMtube	muscle
50	chr4:48256000-48257000	Enhancers	NH-A	brain

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