Variant report

Variant	nsv964862
Chromosome Location	chr5:61807029-61810617
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	chr5:61807981-61808110	Lung_OC	lung:	n/a	n/a
2	EP300	chr5:61807978-61808265	GM12878	blood:	n/a	n/a
3	FOSL2	chr5:61807629-61807933	HepG2	liver:	n/a	n/a
4	GABPA	chr5:61807658-61807879	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr5:61807719-61807843	Hela-S3	cervix:	n/a	n/a
6	IRF4	chr5:61807622-61808004	GM12878	blood:	n/a	n/a
7	NR2F2	chr5:61808417-61808806	K562	blood:	n/a	n/a
8	NR3C1	chr5:61808547-61808728	A549	lung:	n/a	n/a
9	NR3C1	chr5:61808507-61808782	A549	lung:	n/a	n/a
10	PAX5	chr5:61810072-61810454	GM12878	blood:	n/a	n/a
11	PAX5	chr5:61810162-61810389	GM12878	blood:	n/a	n/a
12	PAX5	chr5:61810060-61810466	GM12878	blood:	n/a	n/a
13	PAX5	chr5:61807668-61807971	GM12878	blood:	n/a	n/a
14	PAX5	chr5:61810051-61810512	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:61808096-61808349	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:61810256-61810482	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:61807341-61807541	K562	blood:	n/a	n/a
18	POLR2A	chr5:61809162-61809288	A549	lung:	n/a	n/a
19	POLR2A	chr5:61810232-61810439	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:61807980-61808298	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:61807674-61808165	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:61810461-61810885	K562	blood:	n/a	n/a
23	POU2F2	chr5:61807599-61808225	GM12878	blood:	n/a	n/a
24	REST	chr5:61810478-61810748	HL-60	blood:	n/a	n/a
25	SP1	chr5:61807703-61807971	GM12878	blood:	n/a	n/a
26	SPI1	chr5:61810461-61810938	HL-60	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
27	SPI1	chr5:61810602-61810856	HL-60	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
28	SPI1	chr5:61810600-61810819	GM12878	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
29	SPI1	chr5:61810573-61810875	GM12891	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
30	SPI1	chr5:61808015-61808365	GM12878	blood:	n/a	n/a
31	SPI1	chr5:61810525-61810851	GM12891	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
32	SPI1	chr5:61810596-61810855	K562	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
33	SPI1	chr5:61810606-61810829	GM12878	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
34	SPI1	chr5:61810463-61810882	GM12878	blood:	n/a	chr5:61810738-61810751 chr5:61810740-61810749 chr5:61810739-61810752
35	ZBTB33	chr5:61807963-61808308	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000268942	TF binding region
IPO11	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114386235	chr5:61807067-61807068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182218942	chr5:61807083-61807084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558707304	chr5:61807096-61807097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570724653	chr5:61807128-61807129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539665917	chr5:61807167-61807168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116247795	chr5:61807190-61807191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1610953	chr5:61807291-61807292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35780604	chr5:61807292-61807293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397716123	chr5:61807293-61807294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116514776	chr5:61807410-61807411	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535578225	chr5:61807440-61807441	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555168139	chr5:61807467-61807468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143350631	chr5:61807472-61807473	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112241662	chr5:61807531-61807532	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6891755	chr5:61807540-61807541	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs148343839	chr5:61807551-61807552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371051220	chr5:61807593-61807594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577891808	chr5:61807619-61807620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540505579	chr5:61807652-61807653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112912746	chr5:61807664-61807665	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560773547	chr5:61807698-61807699	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529460725	chr5:61807827-61807828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs549458219	chr5:61807828-61807829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562798203	chr5:61807847-61807848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531750243	chr5:61807851-61807852	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551771641	chr5:61807949-61807950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571645627	chr5:61807958-61807959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539778244	chr5:61807987-61807988	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs375708764	chr5:61808019-61808020	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546567230	chr5:61808057-61808058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201122007	chr5:61808095-61808096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566707242	chr5:61808161-61808162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535250049	chr5:61808221-61808222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201401264	chr5:61808227-61808228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186568576	chr5:61808268-61808269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs202173246	chr5:61808271-61808272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs537472742	chr5:61808302-61808303	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372212649	chr5:61808304-61808305	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200444186	chr5:61808317-61808318	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs557361108	chr5:61808366-61808367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200652878	chr5:61808407-61808408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11960678	chr5:61808464-61808465	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs201954857	chr5:61808551-61808552	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs112548368	chr5:61808562-61808563	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs28602729	chr5:61808566-61808567	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs577204612	chr5:61808584-61808585	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs28627451	chr5:61808590-61808591	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs28675920	chr5:61808592-61808593	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs374823059	chr5:61808609-61808610	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs255389	chr5:61808620-61808621	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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	20729466	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	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61730000-61834200	Weak transcription	Gastric	stomach
5	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
6	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
7	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
8	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
9	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
10	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
13	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
14	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
16	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
18	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
20	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:61771800-61811400	Weak transcription	HMEC	breast
24	chr5:61772200-61850800	Weak transcription	HSMMtube	muscle
25	chr5:61772600-61842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:61773600-61813400	Weak transcription	NHDF-Ad	bronchial
27	chr5:61774200-61827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:61775000-61811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:61775200-61829200	Weak transcription	Brain Germinal Matrix	brain
30	chr5:61781600-61867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:61785600-61811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:61787000-61811400	Weak transcription	HUVEC	blood vessel
33	chr5:61787200-61836000	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:61787400-61818600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:61787400-61829000	Weak transcription	Brain Anterior Caudate	brain
36	chr5:61787400-61866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:61788600-61811200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:61788800-61827000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:61789400-61835400	Weak transcription	Fetal Brain Male	brain
40	chr5:61792600-61826800	Weak transcription	Hela-S3	cervix
41	chr5:61793200-61813200	Weak transcription	Fetal Thymus	thymus
42	chr5:61793600-61818600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:61793600-61905000	Weak transcription	NHEK	skin
44	chr5:61795000-61834000	Weak transcription	Ovary	ovary
45	chr5:61795200-61850600	Weak transcription	Fetal Intestine Small	intestine
46	chr5:61795800-61814800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:61795800-61826600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:61796400-61822000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:61796400-61826400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:61796600-61813000	Weak transcription	Fetal Stomach	stomach

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