Variant report

Variant	esv12099
Chromosome Location	chr10:21857163-21867961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:21859728-21860124	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:21866264-21866520	MCF-7	breast:	n/a	chr10:21866448-21866459
3	CEBPB	chr10:21861436-21861862	IMR90	lung:	n/a	n/a
4	CEBPB	chr10:21866400-21866498	HepG2	liver:	n/a	chr10:21866448-21866459
5	CEBPB	chr10:21861607-21861708	K562	blood:	n/a	n/a
6	CEBPZ	chr10:21859909-21860001	HepG2	liver:	n/a	n/a
7	CTCF	chr10:21864885-21864981	GM13976	blood:	n/a	n/a
8	CUX1	chr10:21860868-21860952	GM12878	blood:	n/a	n/a
9	E2F4	chr10:21867488-21868000	MCF10A-Er-Src	breast:	n/a	n/a
10	EGR1	chr10:21866548-21866771	K562	blood:	n/a	n/a
11	EP300	chr10:21859918-21859921	HepG2	liver:	n/a	n/a
12	EP300	chr10:21859702-21860047	HepG2	liver:	n/a	n/a
13	EP300	chr10:21859601-21860163	HepG2	liver:	n/a	n/a
14	FOS	chr10:21861721-21861891	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr10:21861719-21861920	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:21861680-21861924	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr10:21861699-21861899	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr10:21861561-21861886	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:21859678-21860137	HepG2	liver:	n/a	n/a
20	FOXA1	chr10:21859618-21860168	HepG2	liver:	n/a	n/a
21	FOXA1	chr10:21859514-21860218	HepG2	liver:	n/a	n/a
22	FOXA2	chr10:21859699-21860045	HepG2	liver:	n/a	n/a
23	HDAC2	chr10:21859692-21860170	HepG2	liver:	n/a	n/a
24	HDAC2	chr10:21859738-21860099	HepG2	liver:	n/a	n/a
25	HNF4A	chr10:21859708-21860114	HepG2	liver:	n/a	chr10:21859888-21859903
26	HNF4A	chr10:21859648-21860112	HepG2	liver:	n/a	chr10:21859888-21859903
27	HNF4G	chr10:21859751-21860062	HepG2	liver:	n/a	chr10:21859889-21859904
28	HNF4G	chr10:21859756-21860093	HepG2	liver:	n/a	chr10:21859889-21859904
29	IRF1	chr10:21862987-21863109	K562	blood:	n/a	n/a
30	IRF1	chr10:21863460-21863758	K562	blood:	n/a	n/a
31	JUND	chr10:21861418-21862083	SK-N-SH	brain:	n/a	n/a
32	JUND	chr10:21861712-21861912	K562	blood:	n/a	n/a
33	MBD4	chr10:21859671-21860150	HepG2	liver:	n/a	n/a
34	MYBL2	chr10:21859527-21860274	HepG2	liver:	n/a	n/a
35	NFIC	chr10:21859260-21860258	HepG2	liver:	n/a	n/a
36	NFIC	chr10:21859719-21860170	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:21865272-21865421	ProgFib	skin:	n/a	n/a
38	POLR2A	chr10:21860509-21860687	K562	blood:	n/a	n/a
39	POLR2A	chr10:21866780-21866846	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:21862125-21862325	K562	blood:	n/a	n/a
41	POLR2A	chr10:21862708-21862894	K562	blood:	n/a	n/a
42	POLR2A	chr10:21860319-21860354	Gliobla	brain:	n/a	n/a
43	POLR2A	chr10:21860613-21860688	MCF-7	breast:	n/a	n/a
44	POLR2A	chr10:21866495-21866593	HepG2	liver:	n/a	n/a
45	POLR2A	chr10:21859143-21859153	MCF-7	breast:	n/a	n/a
46	POLR2A	chr10:21863560-21863699	K562	blood:	n/a	n/a
47	POLR2A	chr10:21858065-21858079	K562	blood:	n/a	n/a
48	POLR2A	chr10:21864956-21865093	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:21867177-21867182	K562	blood:	n/a	n/a
50	RXRA	chr10:21859776-21860019	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:21856403..21858053-chr10:21862382..21864387,2	K562	blood:
2	chr10:21856403..21858053-chr10:21862382..21864387,2	K562	blood:
3	chr10:21860750..21863107-chr10:21896992..21899830,2	K562	blood:
4	chr10:21821410..21823149-chr10:21857891..21859763,2	K562	blood:
5	chr10:21814551..21816488-chr10:21860875..21863201,2	K562	blood:
6	chr10:21867816..21870715-chr10:21872864..21875773,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-306P	TF binding region
ENSG00000078403	chromatin interactions
ENSG00000180592	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543262671	chr10:21857197-21857198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75783841	chr10:21857241-21857242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531673042	chr10:21857269-21857270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565586716	chr10:21857352-21857353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535934936	chr10:21857397-21857398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78075230	chr10:21857418-21857419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150852713	chr10:21857438-21857439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180869881	chr10:21857459-21857460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569371430	chr10:21857479-21857480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112976874	chr10:21857518-21857519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533025004	chr10:21857558-21857559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549756493	chr10:21857559-21857560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569824696	chr10:21857599-21857600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535396448	chr10:21857627-21857628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555212733	chr10:21857659-21857660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565751343	chr10:21857667-21857668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145039597	chr10:21857682-21857683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534731682	chr10:21857686-21857687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554251496	chr10:21857688-21857689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557706268	chr10:21857691-21857692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186339983	chr10:21857700-21857701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543887462	chr10:21857701-21857702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557280152	chr10:21857702-21857703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574132885	chr10:21857709-21857710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575944473	chr10:21857726-21857727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537932961	chr10:21857732-21857733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147127980	chr10:21857773-21857774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528781922	chr10:21857792-21857793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541055572	chr10:21857814-21857815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190155035	chr10:21857849-21857850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116426574	chr10:21857857-21857858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536666550	chr10:21857908-21857909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200259703	chr10:21857918-21857919	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549809688	chr10:21857938-21857939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569771286	chr10:21857946-21857947	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529049595	chr10:21857951-21857952	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548750783	chr10:21858009-21858010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116571334	chr10:21858010-21858011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185967502	chr10:21858022-21858023	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375233298	chr10:21858041-21858042	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557767890	chr10:21858043-21858044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557977054	chr10:21858049-21858050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114727277	chr10:21858099-21858100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115296425	chr10:21858126-21858127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190825219	chr10:21858146-21858147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543280071	chr10:21858169-21858170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11012739	chr10:21858185-21858186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201544328	chr10:21858194-21858195	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113289914	chr10:21858196-21858197	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553585626	chr10:21858228-21858229	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21824600-21864600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:21824600-21930400	Weak transcription	Gastric	stomach
3	chr10:21824800-21860200	Weak transcription	Psoas Muscle	Psoas
4	chr10:21825600-21857800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:21832000-21876400	Weak transcription	Aorta	Aorta
6	chr10:21839000-21864200	Weak transcription	Fetal Heart	heart
7	chr10:21839200-21859000	Weak transcription	Right Atrium	heart
8	chr10:21839400-21878200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:21839600-21860600	Weak transcription	Brain Substantia Nigra	brain
10	chr10:21839800-21880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:21840000-21877200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:21841200-21861600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:21841200-21897200	Weak transcription	Fetal Kidney	kidney
14	chr10:21841400-21859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:21841600-21870000	Weak transcription	Right Ventricle	heart
16	chr10:21842200-21897200	Weak transcription	Fetal Brain Male	brain
17	chr10:21842600-21858600	Weak transcription	Spleen	Spleen
18	chr10:21844000-21862200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:21844600-21896600	Weak transcription	Hela-S3	cervix
20	chr10:21845800-21862000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:21846600-21860800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:21846800-21861400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:21846800-21874000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:21846800-21874800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:21846800-21882200	Weak transcription	Brain Germinal Matrix	brain
26	chr10:21846800-21889600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:21846800-21892800	Weak transcription	HSMMtube	muscle
28	chr10:21846800-21913600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:21847000-21901200	Weak transcription	HUVEC	blood vessel
30	chr10:21848200-21860400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:21848400-21865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:21848800-21861200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:21848800-21861600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:21848800-21914200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:21849200-21870400	Weak transcription	NH-A	brain
36	chr10:21849400-21889600	Weak transcription	NHEK	skin
37	chr10:21849400-21913600	Weak transcription	Esophagus	oesophagus
38	chr10:21849800-21858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:21849800-21858600	Weak transcription	Left Ventricle	heart
40	chr10:21849800-21858800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr10:21849800-21859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:21849800-21860200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:21849800-21860200	Weak transcription	Brain Angular Gyrus	brain
44	chr10:21849800-21860400	Weak transcription	NHDF-Ad	bronchial
45	chr10:21849800-21860600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:21849800-21861000	Weak transcription	Brain Anterior Caudate	brain
47	chr10:21849800-21861400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:21849800-21861600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:21849800-21872400	Weak transcription	Primary B cells from cord blood	blood
50	chr10:21849800-21874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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