Variant report

Variant	esv3465245
Chromosome Location	chr4:48414186-48414672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48409760..48411298-chr4:48411593..48414353,2	K562	blood:
2	chr4:48413445..48415846-chr4:48421918..48423637,2	K562	blood:
3	chr4:48402728..48404453-chr4:48414243..48416411,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542542820	chr4:48414229-48414230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560835008	chr4:48414306-48414307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575910987	chr4:48414316-48414317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528116372	chr4:48414338-48414339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73246021	chr4:48414342-48414343	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34239305	chr4:48414381-48414382	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375353620	chr4:48414409-48414410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532193867	chr4:48414426-48414427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71191221	chr4:48414429-48414430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76190667	chr4:48414432-48414433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79739617	chr4:48414433-48414434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62309451	chr4:48414434-48414435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs368294957	chr4:48414435-48414436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202183719	chr4:48414437-48414438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549038242	chr4:48414438-48414439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200235346	chr4:48414439-48414440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539778202	chr4:48414442-48414443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66894522	chr4:48414487-48414488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531101917	chr4:48414535-48414536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186629345	chr4:48414604-48414605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541224549	chr4:48414628-48414629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567948610	chr4:48414657-48414658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148745209	chr4:48414668-48414669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	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
Lung cancer	18438408	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	20952505	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
2	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
7	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:48391200-48423200	Weak transcription	NHLF	lung
12	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
14	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:48396200-48422000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
17	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
18	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood
19	chr4:48399000-48422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:48399000-48423800	Weak transcription	NH-A	brain
21	chr4:48399000-48423800	Weak transcription	NHDF-Ad	bronchial
22	chr4:48399200-48422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:48399200-48426000	Weak transcription	A549	lung
24	chr4:48399800-48424400	Weak transcription	Brain Anterior Caudate	brain
25	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
26	chr4:48400200-48423200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:48400200-48426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:48404600-48421800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:48404800-48423600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:48405400-48422200	Weak transcription	Osteobl	bone
31	chr4:48405800-48421800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:48405800-48422200	Weak transcription	Fetal Thymus	thymus
33	chr4:48406000-48414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:48406000-48422200	Weak transcription	Esophagus	oesophagus
35	chr4:48406000-48423800	Weak transcription	Fetal Brain Female	brain
36	chr4:48406000-48424600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:48406000-48424600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:48406200-48421400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:48406200-48422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:48406200-48422000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:48406200-48422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:48406200-48422200	Weak transcription	Pancreas	Pancrea
43	chr4:48406200-48433200	Weak transcription	NHEK	skin
44	chr4:48408600-48416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:48409400-48414400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:48411000-48414200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:48411200-48423000	Weak transcription	Hela-S3	cervix
48	chr4:48411400-48414800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:48411800-48424000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:48412000-48414200	Strong transcription	HSMM	muscle

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