Variant report

Variant	esv2534303
Chromosome Location	chr5:95908811-95910436
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	chr5:95901536..95903744-chr5:95906929..95910055,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79799556	chr5:95908886-95908887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186334953	chr5:95908966-95908967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565320678	chr5:95908985-95908986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371995760	chr5:95908989-95908990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141199755	chr5:95909042-95909043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555528961	chr5:95909078-95909079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145043743	chr5:95909097-95909098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576849265	chr5:95909115-95909116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs261231	chr5:95909137-95909138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531766736	chr5:95909163-95909164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs261232	chr5:95909193-95909194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189563727	chr5:95909233-95909234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182594643	chr5:95909302-95909303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78807264	chr5:95909329-95909330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200725891	chr5:95909343-95909344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398084312	chr5:95909352-95909353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397770735	chr5:95909353-95909354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548897817	chr5:95909355-95909356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115426639	chr5:95909387-95909388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs261233	chr5:95909410-95909411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538869121	chr5:95909437-95909438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117066834	chr5:95909505-95909506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76762288	chr5:95909528-95909529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72772007	chr5:95909665-95909666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554967305	chr5:95909668-95909669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10075469	chr5:95909680-95909681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540347271	chr5:95909730-95909731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201426512	chr5:95909732-95909733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199639990	chr5:95909733-95909734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186553763	chr5:95909988-95909989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191356459	chr5:95910047-95910048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141926903	chr5:95910059-95910060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201556468	chr5:95910061-95910062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565423684	chr5:95910087-95910088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577356840	chr5:95910092-95910093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183590743	chr5:95910124-95910125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544744569	chr5:95910153-95910154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562765572	chr5:95910158-95910159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs261246	chr5:95910222-95910223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187602859	chr5:95910241-95910242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560527685	chr5:95910292-95910293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199759183	chr5:95910361-95910362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200736276	chr5:95910373-95910374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370165263	chr5:95910420-95910421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142275392	chr5:95910436-95910437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95905400-95918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95906600-95909600	Enhancers	HUVEC	blood vessel
3	chr5:95907200-95909400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:95908000-95909400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:95908000-95909400	Enhancers	NH-A	brain
6	chr5:95908000-95910400	Enhancers	Hela-S3	cervix
7	chr5:95908200-95909200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:95908200-95909400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:95908200-95909400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:95908200-95909400	Enhancers	HMEC	breast
11	chr5:95908200-95909400	Enhancers	NHEK	skin
12	chr5:95908200-95909600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:95908400-95909000	Enhancers	HSMM	muscle
14	chr5:95908400-95909000	Enhancers	NHDF-Ad	bronchial
15	chr5:95908400-95909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:95908400-95909200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:95908400-95909400	Enhancers	A549	lung
18	chr5:95908400-95909600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:95908400-95909600	Enhancers	Osteobl	bone
20	chr5:95908800-95917800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:95909000-95913600	Weak transcription	NHDF-Ad	bronchial
22	chr5:95909400-95913400	Weak transcription	NH-A	brain
23	chr5:95909400-95913600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:95909400-95914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:95909600-95913600	Weak transcription	HUVEC	blood vessel
26	chr5:95910400-95916600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links