Variant report

Variant	esv3357135
Chromosome Location	chr5:59830395-59833193
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	chr5:59831215..59833995-chr5:59834537..59838360,3	K562	blood:
2	chr5:59809546..59811841-chr5:59829888..59832066,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150597182	chr5:59830403-59830404	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186577989	chr5:59830470-59830471	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552997177	chr5:59830473-59830474	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531380540	chr5:59830474-59830475	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551088150	chr5:59830484-59830485	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs71630012	chr5:59830492-59830493	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565214442	chr5:59830518-59830519	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs3857235	chr5:59830539-59830540	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74591808	chr5:59830581-59830582	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567095492	chr5:59830635-59830636	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534683060	chr5:59830642-59830643	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536350418	chr5:59830665-59830666	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73093138	chr5:59830685-59830686	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571455503	chr5:59830704-59830705	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569805587	chr5:59830720-59830721	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190983814	chr5:59830726-59830727	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367636359	chr5:59830805-59830806	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566395833	chr5:59830863-59830864	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554544495	chr5:59830866-59830867	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200451288	chr5:59830867-59830868	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545557664	chr5:59830870-59830871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559230510	chr5:59830895-59830896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183587185	chr5:59830896-59830897	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532291515	chr5:59830898-59830899	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555220445	chr5:59830935-59830936	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575048789	chr5:59831009-59831010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544024364	chr5:59831055-59831056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28531078	chr5:59831098-59831099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576036867	chr5:59831135-59831136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545023921	chr5:59831146-59831147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564691989	chr5:59831172-59831173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527605607	chr5:59831244-59831245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540881090	chr5:59831343-59831344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560758423	chr5:59831356-59831357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375291369	chr5:59831413-59831414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139556579	chr5:59831425-59831426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556980283	chr5:59831427-59831428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74913791	chr5:59831430-59831431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374557744	chr5:59831431-59831432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543470522	chr5:59831482-59831483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112839481	chr5:59831553-59831554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532482870	chr5:59831659-59831660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74921331	chr5:59831706-59831707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372462790	chr5:59831708-59831709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376344896	chr5:59831741-59831742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555345188	chr5:59831754-59831755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188584071	chr5:59831794-59831795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568770324	chr5:59831805-59831806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146210157	chr5:59831819-59831820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368784484	chr5:59831874-59831875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	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
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59824000-59834200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:59828000-59834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59828000-59837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:59829000-59831800	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:59829600-59831000	ZNF genes & repeats	GM12878-XiMat	blood
6	chr5:59829800-59834600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:59830000-59835200	Weak transcription	HepG2	liver
8	chr5:59830200-59830400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr5:59830200-59831000	Weak transcription	Primary B cells from cord blood	blood
10	chr5:59830400-59835400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:59831000-59831600	Enhancers	GM12878-XiMat	blood
12	chr5:59831000-59832200	Enhancers	Primary B cells from cord blood	blood
13	chr5:59831600-59835000	Weak transcription	GM12878-XiMat	blood
14	chr5:59831800-59834000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:59832200-59833800	Weak transcription	Primary B cells from cord blood	blood

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