Variant report

Variant	nsv969927
Chromosome Location	chr5:97976395-97980335
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	CTCF	chr5:97976280-97976430	BE2_C	brain:	n/a	n/a
2	GABPA	chr5:97977295-97977373	HepG2	liver:	n/a	n/a
3	GABPA	chr5:97977317-97977370	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:97977720-97977850	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000223053	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151267168	chr5:97976395-97976396	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs562067354	chr5:97976430-97976431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140460645	chr5:97976454-97976455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150398779	chr5:97976465-97976466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537824580	chr5:97976478-97976479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556724081	chr5:97976559-97976560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574972840	chr5:97976583-97976584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189746959	chr5:97976621-97976622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554802648	chr5:97976646-97976647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572910615	chr5:97976664-97976665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143056276	chr5:97976689-97976690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565004736	chr5:97976707-97976708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527657937	chr5:97976730-97976731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532160901	chr5:97976747-97976748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181852905	chr5:97976758-97976759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562281954	chr5:97976766-97976767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547684142	chr5:97976775-97976776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145136602	chr5:97976786-97976787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547832728	chr5:97976787-97976788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374738401	chr5:97976788-97976789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566735256	chr5:97976792-97976793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527851010	chr5:97976850-97976851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186940580	chr5:97976889-97976890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138968425	chr5:97976897-97976898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538272751	chr5:97976909-97976910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117526047	chr5:97976928-97976929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78028586	chr5:97976964-97976965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544896298	chr5:97976966-97976967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56998993	chr5:97976976-97976977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35018783	chr5:97977001-97977002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62369102	chr5:97977053-97977054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554273139	chr5:97977067-97977068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573013994	chr5:97977105-97977106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11950934	chr5:97977112-97977113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11948832	chr5:97977122-97977123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192134205	chr5:97977152-97977153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577051804	chr5:97977176-97977177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181735423	chr5:97977188-97977189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143963094	chr5:97977191-97977192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185125006	chr5:97977200-97977201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189585207	chr5:97977203-97977204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77503045	chr5:97977257-97977258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372626487	chr5:97977299-97977300	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371777050	chr5:97977334-97977335	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs78273031	chr5:97977339-97977340	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10057442	chr5:97977347-97977348	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571165061	chr5:97977358-97977359	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537034149	chr5:97977359-97977360	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs148213753	chr5:97977392-97977393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535821124	chr5:97977395-97977396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97972000-97977600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:97972000-97977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:97974400-97976600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:97974600-97976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:97974600-97977200	Weak transcription	HSMMtube	muscle
6	chr5:97974600-97977400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:97974800-97979200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:97975000-97979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:97975200-97977000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:97975400-97976800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:97975400-97977000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:97975400-97977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:97975400-97977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:97975400-97977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:97975400-97977600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97975600-97977400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:97976600-97976800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:97976800-97977200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:97976800-97979400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:97976800-97979400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:97977000-97977800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:97977000-97978200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:97977200-97977800	Enhancers	HSMMtube	muscle
24	chr5:97977200-97978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:97977400-97977600	Enhancers	HSMM	muscle
26	chr5:97977400-97977800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:97977400-97978000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:97977400-97978000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:97977400-97978000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:97977400-97978000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:97977600-97977800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:97977600-97978000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:97977600-97978000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:97977600-97978000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:97977800-97978600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:97978000-97978400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:97978000-97979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:97978200-97978600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:97978400-97979200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:97978600-97979400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:97979000-97980000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:97979200-97979600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97979200-97980000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:97979400-97979600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:97979600-97985800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:97980000-97981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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