Variant report

Variant	esv3353077
Chromosome Location	chr5:145160409-145162407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145160263..145163172-chr5:145167851..145170610,3	K562	blood:
2	chr5:145160263..145163172-chr5:145168615..145170610,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150353526	chr5:145160458-145160459	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532070047	chr5:145160493-145160494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569026980	chr5:145160592-145160593	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6580387	chr5:145160619-145160620	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377563822	chr5:145160667-145160668	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137969076	chr5:145160671-145160672	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149485249	chr5:145160676-145160677	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77323294	chr5:145160704-145160705	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76426945	chr5:145160716-145160717	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529516151	chr5:145160717-145160718	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565536475	chr5:145160728-145160729	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528128181	chr5:145160745-145160746	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114067063	chr5:145160793-145160794	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6861326	chr5:145160800-145160801	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191809190	chr5:145160809-145160810	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558312222	chr5:145160837-145160838	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572019413	chr5:145160841-145160842	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567985724	chr5:145160878-145160879	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540626074	chr5:145160886-145160887	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561257958	chr5:145160911-145160912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184090932	chr5:145160926-145160927	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141579530	chr5:145160934-145160935	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543248595	chr5:145160938-145160939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563121626	chr5:145160962-145160963	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576865816	chr5:145160990-145160991	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536965140	chr5:145161029-145161030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188971992	chr5:145161078-145161079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531736812	chr5:145161159-145161160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551842179	chr5:145161163-145161164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534122019	chr5:145161187-145161188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555545801	chr5:145161190-145161191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571609203	chr5:145161195-145161196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189986519	chr5:145161203-145161204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563635291	chr5:145161239-145161240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376391264	chr5:145161261-145161262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368293181	chr5:145161262-145161263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182349396	chr5:145161272-145161273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138858533	chr5:145161325-145161326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371965494	chr5:145161326-145161327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186612682	chr5:145161336-145161337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200284317	chr5:145161337-145161338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112358316	chr5:145161340-145161341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536928129	chr5:145161367-145161368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191813117	chr5:145161403-145161404	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570255988	chr5:145161452-145161453	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538819565	chr5:145161464-145161465	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371023041	chr5:145161493-145161494	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572017539	chr5:145161494-145161495	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544886388	chr5:145161497-145161498	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570270367	chr5:145161530-145161531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145111400-145166800	Weak transcription	K562	blood
4	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
5	chr5:145139000-145165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:145141200-145194400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:145142400-145162400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:145147400-145161800	Weak transcription	Lung	lung
9	chr5:145148800-145166600	Weak transcription	Fetal Heart	heart
10	chr5:145152000-145167200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:145152200-145171000	Weak transcription	Stomach Mucosa	stomach
12	chr5:145154600-145166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:145154600-145169600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:145155400-145167200	Weak transcription	Right Atrium	heart
15	chr5:145156000-145171400	Weak transcription	Aorta	Aorta
16	chr5:145156200-145160600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:145156400-145160600	Weak transcription	HUVEC	blood vessel
18	chr5:145156400-145166000	Weak transcription	Fetal Lung	lung
19	chr5:145156400-145167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:145157000-145161400	Weak transcription	HepG2	liver
21	chr5:145157000-145167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:145157000-145167800	Weak transcription	NH-A	brain
23	chr5:145157200-145161000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:145157200-145161400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:145157200-145161600	Weak transcription	Ovary	ovary
26	chr5:145157200-145166800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:145157400-145167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:145157600-145160600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:145157600-145167200	Weak transcription	Left Ventricle	heart
30	chr5:145158400-145160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:145158400-145160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:145158400-145161400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:145158400-145164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:145158400-145167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:145158400-145171400	Weak transcription	Fetal Stomach	stomach
36	chr5:145158400-145176800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:145158400-145177000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:145158400-145179000	Weak transcription	Gastric	stomach
39	chr5:145158400-145196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:145158400-145207000	Weak transcription	Esophagus	oesophagus
41	chr5:145158600-145161400	Weak transcription	Fetal Intestine Large	intestine
42	chr5:145158600-145161600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:145158600-145161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:145158600-145161800	Weak transcription	Fetal Intestine Small	intestine
45	chr5:145158600-145165200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:145158600-145165400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:145158600-145165400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:145159800-145162000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:145160000-145161000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:145160000-145162000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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