Variant report

Variant	esv2465153
Chromosome Location	chr5:96701852-96703300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr5:96702311-96702511	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
YTHDF1P1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536191414	chr5:96701869-96701870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181647215	chr5:96701892-96701893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533705308	chr5:96701946-96701947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11949589	chr5:96701965-96701966	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570607055	chr5:96701988-96701989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76565157	chr5:96701998-96701999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556123925	chr5:96702005-96702006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558205883	chr5:96702024-96702025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555782247	chr5:96702046-96702047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542230667	chr5:96702048-96702049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1390180	chr5:96702074-96702075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186847583	chr5:96702097-96702098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34814832	chr5:96702114-96702115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546074771	chr5:96702121-96702122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11950316	chr5:96702185-96702186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143192390	chr5:96702244-96702245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148264845	chr5:96702245-96702246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562590246	chr5:96702255-96702256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529610380	chr5:96702261-96702262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574156277	chr5:96702271-96702272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548177797	chr5:96702342-96702343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372193158	chr5:96702344-96702345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200932475	chr5:96702379-96702380	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs11135509	chr5:96702380-96702381	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551930857	chr5:96702381-96702382	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570349069	chr5:96702390-96702391	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs537666498	chr5:96702394-96702395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369449910	chr5:96702415-96702416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568543811	chr5:96702488-96702489	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76924957	chr5:96702500-96702501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554182281	chr5:96702552-96702553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572649389	chr5:96702569-96702570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7731516	chr5:96702583-96702584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145500703	chr5:96702622-96702623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6893895	chr5:96702666-96702667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78837872	chr5:96702697-96702698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6556978	chr5:96702735-96702736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192185441	chr5:96702741-96702742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7718575	chr5:96702743-96702744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149385671	chr5:96702745-96702746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545285001	chr5:96702746-96702747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13354008	chr5:96702750-96702751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530843414	chr5:96702798-96702799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560120521	chr5:96702826-96702827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541143802	chr5:96702882-96702883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527573896	chr5:96702885-96702886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552020801	chr5:96702916-96702917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13354043	chr5:96702993-96702994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs531358095	chr5:96703026-96703027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138024217	chr5:96703035-96703036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96699400-96702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:96699600-96703200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:96700600-96702000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:96700600-96702200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:96701000-96702000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:96701000-96702000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:96701800-96702000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:96702000-96705600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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