Variant report

Variant	esv3375487
Chromosome Location	chr5:68544244-68544773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375117138	chr5:68544277-68544278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141514420	chr5:68544281-68544282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559818338	chr5:68544307-68544308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565338124	chr5:68544323-68544324	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557773298	chr5:68544374-68544375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147070016	chr5:68544394-68544395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544081121	chr5:68544401-68544402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189823388	chr5:68544411-68544412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574213298	chr5:68544467-68544468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112781247	chr5:68544472-68544473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188614573	chr5:68544480-68544481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533236956	chr5:68544495-68544496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2932786	chr5:68544543-68544544	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs60824482	chr5:68544589-68544590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs368859359	chr5:68544617-68544618	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559825118	chr5:68544620-68544621	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199731728	chr5:68544622-68544623	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61331502	chr5:68544628-68544629	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551598193	chr5:68544629-68544630	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370268074	chr5:68544630-68544631	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs70992911	chr5:68544646-68544647	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75624209	chr5:68544663-68544664	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550009267	chr5:68544666-68544667	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193257142	chr5:68544766-68544767	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68531600-68554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:68531800-68545800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:68531800-68552200	Weak transcription	Colonic Mucosa	Colon
6	chr5:68531800-68552200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:68531800-68554600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:68531800-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:68532200-68551400	Weak transcription	Psoas Muscle	Psoas
11	chr5:68532200-68553400	Weak transcription	Fetal Heart	heart
12	chr5:68532400-68551600	Weak transcription	Ovary	ovary
13	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
15	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
16	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
17	chr5:68533200-68545800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:68533400-68551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:68533600-68546200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:68533600-68552200	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:68533600-68552400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:68534200-68552400	Weak transcription	Fetal Brain Female	brain
24	chr5:68534400-68546200	Weak transcription	Lung	lung
25	chr5:68534400-68552000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:68534400-68554600	Weak transcription	Gastric	stomach
27	chr5:68534400-68556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
29	chr5:68534800-68546000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:68534800-68546200	Weak transcription	Esophagus	oesophagus
31	chr5:68534800-68546200	Weak transcription	Thymus	Thymus
32	chr5:68534800-68551800	Weak transcription	Left Ventricle	heart
33	chr5:68534800-68554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:68535000-68551600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:68535200-68550800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:68535200-68558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:68535200-68559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:68535400-68546400	Weak transcription	Pancreas	Pancrea
39	chr5:68535400-68551600	Weak transcription	HUVEC	blood vessel
40	chr5:68535400-68553400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:68535400-68553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:68535400-68556600	Weak transcription	HSMMtube	muscle
43	chr5:68535600-68552400	Weak transcription	Fetal Kidney	kidney
44	chr5:68535800-68546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:68536000-68550600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:68536200-68548400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:68536400-68546000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:68536400-68550800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:68536400-68552600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:68536600-68551600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links