Variant report

Variant	esv3367238
Chromosome Location	chr5:99607453-99609501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549546584	chr5:99607460-99607461	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568063135	chr5:99607466-99607467	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146736391	chr5:99607472-99607473	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553607681	chr5:99607498-99607499	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573157387	chr5:99607503-99607504	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181108555	chr5:99607585-99607586	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558796813	chr5:99607593-99607594	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148897111	chr5:99607600-99607601	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112603508	chr5:99607635-99607636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556791477	chr5:99607641-99607642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73776481	chr5:99607647-99607648	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143588463	chr5:99607656-99607657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114061745	chr5:99607727-99607728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534128756	chr5:99607760-99607761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527303663	chr5:99607782-99607783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114341615	chr5:99607811-99607812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145511248	chr5:99607817-99607818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1645153	chr5:99607834-99607835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185709055	chr5:99607904-99607905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1628244	chr5:99607912-99607913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371106367	chr5:99607943-99607944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529006435	chr5:99607964-99607965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541440331	chr5:99607983-99607984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547308696	chr5:99607991-99607992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557743645	chr5:99607993-99607994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556964990	chr5:99607994-99607995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78479156	chr5:99608028-99608029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553863275	chr5:99608055-99608056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538332281	chr5:99608081-99608082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190423883	chr5:99608085-99608086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77649741	chr5:99608097-99608098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373687742	chr5:99608108-99608109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554203801	chr5:99608124-99608125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572680088	chr5:99608143-99608144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113468013	chr5:99608165-99608166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112519507	chr5:99608168-99608169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575402270	chr5:99608213-99608214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180822886	chr5:99608274-99608275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531170173	chr5:99608303-99608304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371528	chr5:99608306-99608307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564177127	chr5:99608314-99608315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577132782	chr5:99608318-99608319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529066850	chr5:99608423-99608424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547552595	chr5:99608432-99608433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546000986	chr5:99608568-99608569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151013836	chr5:99608619-99608620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7733170	chr5:99608621-99608622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2617324	chr5:99608653-99608654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2546180	chr5:99608662-99608663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556711928	chr5:99608663-99608664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99606000-99607600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:99606000-99607800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:99606600-99609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:99606600-99609600	Weak transcription	NHEK	skin
5	chr5:99606800-99609800	Weak transcription	Fetal Kidney	kidney
6	chr5:99606800-99610600	Weak transcription	Fetal Brain Male	brain
7	chr5:99607200-99607600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:99609200-99610400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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