Variant report

Variant	esv3353064
Chromosome Location	chr5:145553309-145555207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145551052..145554687-chr5:145559207..145562583,5	K562	blood:
2	chr5:145553826..145555566-chr5:145583178..145584730,2	K562	blood:
3	chr5:145551516..145553977-chr5:145559737..145562085,2	K562	blood:
4	chr5:145551306..145553774-chr5:145557195..145559625,2	K562	blood:
5	chr5:145544700..145547234-chr5:145551344..145553851,2	K562	blood:
6	chr5:145525794..145527740-chr5:145551579..145553885,3	K562	blood:

Variant related genes	Relation type
ENSG00000133706	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547518776	chr5:145553375-145553376	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35749752	chr5:145553402-145553403	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs368464369	chr5:145553434-145553435	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552854085	chr5:145553485-145553486	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536096769	chr5:145553490-145553491	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186956262	chr5:145553509-145553510	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190616141	chr5:145553584-145553585	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576038071	chr5:145553664-145553665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372368922	chr5:145553667-145553668	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11744010	chr5:145553672-145553673	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554212565	chr5:145553707-145553708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs66479730	chr5:145553708-145553709	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs66999817	chr5:145553729-145553730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74497281	chr5:145553731-145553732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537838750	chr5:145553784-145553785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111363094	chr5:145553876-145553877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535177334	chr5:145553898-145553899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577960132	chr5:145553933-145553934	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149640998	chr5:145553940-145553941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560251995	chr5:145553948-145553949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144322464	chr5:145553996-145553997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs542440819	chr5:145554008-145554009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375382282	chr5:145554010-145554011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199590338	chr5:145554025-145554026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369876453	chr5:145554027-145554028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57666793	chr5:145554029-145554030	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367626245	chr5:145554033-145554034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371258403	chr5:145554034-145554035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561395198	chr5:145554049-145554050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550238465	chr5:145554050-145554051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28449376	chr5:145554055-145554056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs72015650	chr5:145554063-145554064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377657113	chr5:145554065-145554066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs55723048	chr5:145554067-145554068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370878443	chr5:145554068-145554069	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112555853	chr5:145554071-145554072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2963910	chr5:145554075-145554076	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373417427	chr5:145554076-145554077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376438569	chr5:145554083-145554084	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77505563	chr5:145554084-145554085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370527668	chr5:145554085-145554086	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373669605	chr5:145554090-145554091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28579770	chr5:145554091-145554092	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs70998061	chr5:145554096-145554097	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs60132964	chr5:145554099-145554100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202066528	chr5:145554108-145554109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11957745	chr5:145554109-145554110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12055029	chr5:145554111-145554112	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367587799	chr5:145554119-145554120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148774605	chr5:145554125-145554126	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
7	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:145515800-145557400	Strong transcription	Liver	Liver
16	chr5:145519200-145558200	Strong transcription	Dnd41	blood
17	chr5:145526800-145554000	Strong transcription	Adipose Nuclei	Adipose
18	chr5:145532200-145559600	Weak transcription	Small Intestine	intestine
19	chr5:145532200-145561000	Weak transcription	Esophagus	oesophagus
20	chr5:145534800-145553400	Strong transcription	NHDF-Ad	bronchial
21	chr5:145535200-145559600	Strong transcription	Fetal Muscle Leg	muscle
22	chr5:145535400-145553600	Strong transcription	Osteobl	bone
23	chr5:145535600-145559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:145536400-145553800	Strong transcription	K562	blood
25	chr5:145537800-145560800	Weak transcription	Fetal Heart	heart
26	chr5:145541000-145560400	Weak transcription	Right Atrium	heart
27	chr5:145541600-145553600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:145542400-145556000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:145542600-145559600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:145542600-145560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:145542600-145560400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:145542600-145560600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:145542800-145559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:145542800-145561200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:145543000-145560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:145543600-145560400	Weak transcription	Brain Angular Gyrus	brain
37	chr5:145544000-145560400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:145544000-145560400	Weak transcription	Psoas Muscle	Psoas
39	chr5:145544600-145559400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:145545600-145557400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:145545800-145557800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:145546200-145558200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:145546200-145560200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:145546200-145560400	Weak transcription	Pancreas	Pancrea
45	chr5:145546400-145558800	Weak transcription	Brain Germinal Matrix	brain
46	chr5:145546800-145559000	Weak transcription	Fetal Brain Male	brain
47	chr5:145547000-145561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:145547200-145557400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr5:145547600-145553400	Strong transcription	HUVEC	blood vessel
50	chr5:145547600-145556400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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