Variant report

Variant	esv2621701
Chromosome Location	chr5:74694021-74695230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188413147	chr5:74694027-74694028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541660826	chr5:74694045-74694046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571209260	chr5:74694060-74694061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564675296	chr5:74694091-74694092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373714924	chr5:74694128-74694129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549157710	chr5:74694149-74694150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377572730	chr5:74694182-74694183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115126105	chr5:74694257-74694258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145961134	chr5:74694264-74694265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563818312	chr5:74694283-74694284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565690348	chr5:74694300-74694301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370124047	chr5:74694301-74694302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547734224	chr5:74694339-74694340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567823909	chr5:74694454-74694455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527351348	chr5:74694487-74694488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74660807	chr5:74694518-74694519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570652982	chr5:74694588-74694589	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373192838	chr5:74694603-74694604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534924515	chr5:74694646-74694647	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139471072	chr5:74694697-74694698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192817053	chr5:74694745-74694746	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76604521	chr5:74694746-74694747	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2739107	chr5:74694750-74694751	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555767157	chr5:74694781-74694782	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572596936	chr5:74694796-74694797	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2739106	chr5:74694797-74694798	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541569257	chr5:74694823-74694824	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557957565	chr5:74694831-74694832	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578153278	chr5:74694854-74694855	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149234424	chr5:74694856-74694857	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564009902	chr5:74694917-74694918	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554373277	chr5:74694945-74694946	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113524518	chr5:74694955-74694956	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572799268	chr5:74694956-74694957	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112614108	chr5:74694984-74694985	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375559066	chr5:74695085-74695086	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182888954	chr5:74695091-74695092	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376883349	chr5:74695093-74695094	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541439441	chr5:74695094-74695095	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371606875	chr5:74695102-74695103	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375052732	chr5:74695103-74695104	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368886922	chr5:74695119-74695120	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557731873	chr5:74695165-74695166	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372650212	chr5:74695179-74695180	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs267600691	chr5:74695203-74695204	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371039682	chr5:74695208-74695209	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	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
Spinal muscular atrophy	21762474	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
7	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
8	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
11	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
12	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
14	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
15	chr5:74675400-74694800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:74675400-74699600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:74675400-74720800	Weak transcription	Small Intestine	intestine
18	chr5:74676200-74695000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:74676200-74721000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:74677000-74701000	Weak transcription	A549	lung
21	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:74677600-74709200	Weak transcription	Gastric	stomach
23	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:74677800-74694800	Weak transcription	Fetal Kidney	kidney
25	chr5:74677800-74695200	Weak transcription	Brain Anterior Caudate	brain
26	chr5:74677800-74721000	Weak transcription	NH-A	brain
27	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
29	chr5:74678000-74708000	Weak transcription	NHLF	lung
30	chr5:74678000-74720600	Weak transcription	Colonic Mucosa	Colon
31	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
32	chr5:74680600-74721000	Weak transcription	HMEC	breast
33	chr5:74680800-74694800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
36	chr5:74681400-74694800	Weak transcription	Placenta	Placenta
37	chr5:74681400-74718400	Weak transcription	Brain Germinal Matrix	brain
38	chr5:74681600-74694800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:74681600-74695000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:74681800-74720600	Weak transcription	Fetal Brain Male	brain
41	chr5:74682000-74695000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:74682000-74699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:74682000-74708000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:74682200-74694200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:74682200-74705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:74683200-74698600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:74683800-74695000	Weak transcription	Fetal Brain Female	brain
48	chr5:74684000-74694600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:74684000-74694800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:74684000-74695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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