Variant report

Variant	esv3392473
Chromosome Location	chr5:107281203-107283101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568510701	chr5:107281221-107281222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537490875	chr5:107281223-107281224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554230991	chr5:107281290-107281291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185995468	chr5:107281295-107281296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115847925	chr5:107281361-107281362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371621382	chr5:107281384-107281385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553498830	chr5:107281392-107281393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191309430	chr5:107281437-107281438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12659811	chr5:107281547-107281548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115291051	chr5:107281552-107281553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10070308	chr5:107281621-107281622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
12	rs12659389	chr5:107281699-107281700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181261066	chr5:107281714-107281715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114829045	chr5:107281723-107281724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561285526	chr5:107281739-107281740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530173588	chr5:107281793-107281794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546785824	chr5:107281871-107281872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560249176	chr5:107281875-107281876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532255055	chr5:107281910-107281911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144491766	chr5:107281943-107281944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201604465	chr5:107281953-107281954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186266004	chr5:107281958-107281959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55749713	chr5:107281992-107281993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55643516	chr5:107282010-107282011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs70996970	chr5:107282011-107282012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4091222	chr5:107282033-107282034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537426536	chr5:107282051-107282052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556665983	chr5:107282156-107282157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368208930	chr5:107282157-107282158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547754871	chr5:107282163-107282164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147994050	chr5:107282165-107282166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138740833	chr5:107282178-107282179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56146664	chr5:107282186-107282187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564459467	chr5:107282231-107282232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115354560	chr5:107282254-107282255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573374959	chr5:107282286-107282287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28413648	chr5:107282335-107282336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201224016	chr5:107282348-107282349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72795980	chr5:107282349-107282350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
40	rs549645461	chr5:107282431-107282432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571335001	chr5:107282436-107282437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538327267	chr5:107282450-107282451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544933630	chr5:107282528-107282529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76749485	chr5:107282595-107282596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574742582	chr5:107282630-107282631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540720571	chr5:107282634-107282635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565897201	chr5:107282637-107282638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560423923	chr5:107282737-107282738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532322433	chr5:107282749-107282750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7716454	chr5:107282788-107282789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:81)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107261400-107286600	Weak transcription	Aorta	Aorta
2	chr5:107265800-107284200	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107273400-107284200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:107273600-107287800	Weak transcription	Gastric	stomach
5	chr5:107273800-107286600	Weak transcription	Right Atrium	heart
6	chr5:107274000-107286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:107274400-107284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:107274600-107290000	Weak transcription	Fetal Brain Female	brain
9	chr5:107275200-107286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:107275200-107286600	Weak transcription	Lung	lung
11	chr5:107277800-107285200	Weak transcription	Thymus	Thymus
12	chr5:107278000-107287200	Weak transcription	Pancreas	Pancrea
13	chr5:107278800-107285200	Weak transcription	Fetal Thymus	thymus
14	chr5:107279200-107284200	Weak transcription	Dnd41	blood
15	chr5:107279800-107284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:107282800-107283200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links