Variant report

Variant	nsv947765
Chromosome Location	chr10:21845377-21874408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

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	ARID3A	chr10:21873682-21873975	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:21856032-21856426	HepG2	liver:	n/a	n/a
4	ATF2	chr10:21870184-21870812	GM12878	blood:	n/a	n/a
5	ATF2	chr10:21870235-21871066	GM12878	blood:	n/a	n/a
6	BATF	chr10:21870200-21870840	GM12878	blood:	n/a	n/a
7	BATF	chr10:21870207-21870775	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:21870516-21870778	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:21870237-21870685	GM12878	blood:	n/a	n/a
10	BCLAF1	chr10:21870158-21870851	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:21870412-21870612	GM12878	blood:	n/a	n/a
12	BHLHE40	chr10:21870834-21870981	GM12878	blood:	n/a	n/a
13	CEBPB	chr10:21873806-21874007	HepG2	liver:	n/a	chr10:21873902-21873913
14	CEBPB	chr10:21861436-21861862	IMR90	lung:	n/a	n/a
15	CEBPB	chr10:21870845-21871025	K562	blood:	n/a	chr10:21870892-21870903
16	CEBPB	chr10:21861607-21861708	K562	blood:	n/a	n/a
17	CEBPB	chr10:21870785-21870941	HepG2	liver:	n/a	chr10:21870892-21870903
18	CEBPB	chr10:21873804-21874062	HepG2	liver:	n/a	chr10:21873902-21873913
19	CEBPB	chr10:21866400-21866498	HepG2	liver:	n/a	chr10:21866448-21866459
20	CEBPB	chr10:21856190-21856330	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:21873769-21874068	HepG2	liver:	n/a	chr10:21873902-21873913
22	CEBPB	chr10:21866264-21866520	MCF-7	breast:	n/a	chr10:21866448-21866459
23	CEBPB	chr10:21873768-21874068	HepG2	liver:	n/a	chr10:21873902-21873913
24	CEBPB	chr10:21873865-21874013	K562	blood:	n/a	chr10:21873902-21873913
25	CEBPD	chr10:21873819-21874069	HepG2	liver:	n/a	n/a
26	CEBPZ	chr10:21859909-21860001	HepG2	liver:	n/a	n/a
27	CHD1	chr10:21870447-21870489	GM12878	blood:	n/a	n/a
28	CHD1	chr10:21870856-21871004	GM12878	blood:	n/a	n/a
29	CTCF	chr10:21864885-21864981	GM13976	blood:	n/a	n/a
30	CTCF	chr10:21869057-21869131	GM13976	blood:	n/a	n/a
31	CTCF	chr10:21869732-21869749	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr10:21870300-21870450	GM12870	blood:	n/a	n/a
33	CUX1	chr10:21870476-21870494	GM12878	blood:	n/a	n/a
34	CUX1	chr10:21860868-21860952	GM12878	blood:	n/a	n/a
35	E2F4	chr10:21867488-21868000	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr10:21870291-21871024	GM12878	blood:	n/a	n/a
37	EBF1	chr10:21870813-21871066	GM12878	blood:	n/a	n/a
38	EGR1	chr10:21866548-21866771	K562	blood:	n/a	n/a
39	EP300	chr10:21873790-21874011	HepG2	liver:	n/a	n/a
40	EP300	chr10:21859918-21859921	HepG2	liver:	n/a	n/a
41	EP300	chr10:21870426-21870856	GM12878	blood:	n/a	n/a
42	EP300	chr10:21859601-21860163	HepG2	liver:	n/a	n/a
43	EP300	chr10:21856027-21856585	HepG2	liver:	n/a	n/a
44	EP300	chr10:21855980-21856549	HepG2	liver:	n/a	n/a
45	EP300	chr10:21870422-21870801	GM12878	blood:	n/a	n/a
46	EP300	chr10:21859702-21860047	HepG2	liver:	n/a	n/a
47	FOS	chr10:21861680-21861924	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr10:21861721-21861891	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr10:21861699-21861899	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr10:21861719-21861920	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:21814551..21816488-chr10:21860875..21863201,2	K562	blood:
2	chr10:21822224..21824200-chr10:21854065..21856525,2	K562	blood:
3	chr10:21871808..21874312-chr10:21879354..21881232,2	K562	blood:
4	chr10:21812909..21816214-chr10:21843068..21845427,3	MCF-7	breast:
5	chr10:21856403..21858053-chr10:21862382..21864387,2	K562	blood:
6	chr10:21867816..21870715-chr10:21872864..21875773,2	K562	blood:
7	chr10:21821410..21823149-chr10:21857891..21859763,2	K562	blood:
8	chr10:21860750..21863107-chr10:21896992..21899830,2	K562	blood:
9	chr10:21822738..21824833-chr10:21869114..21872082,2	K562	blood:
10	chr10:21823293..21824850-chr10:21844513..21847043,2	MCF-7	breast:
11	chr10:21856403..21858053-chr10:21862382..21864387,2	K562	blood:
12	chr10:21847924..21850525-chr10:22012351..22015305,2	MCF-7	breast:
13	chr10:21812998..21814709-chr10:21843964..21846708,2	K562	blood:
14	chr10:21867816..21870715-chr10:21872864..21875773,2	K562	blood:
15	chr10:21812744..21815300-chr10:21848601..21850158,2	K562	blood:
16	chr10:21828206..21830933-chr10:21844979..21847249,2	MCF-7	breast:
17	chr10:21805605..21807805-chr10:21851609..21854226,2	MCF-7	breast:
18	chr10:21841032..21843534-chr10:21848638..21850144,2	K562	blood:

No data

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

Extended variants
information (count: 1147 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79624435	chr10:21845398-21845399	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189239254	chr10:21845450-21845451	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577639088	chr10:21845482-21845483	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543380872	chr10:21845485-21845486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563329883	chr10:21845503-21845504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551370743	chr10:21845521-21845522	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373461606	chr10:21845526-21845527	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377289570	chr10:21845528-21845529	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529371903	chr10:21845546-21845547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201598536	chr10:21845598-21845599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370825620	chr10:21845624-21845625	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373961871	chr10:21845646-21845647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76300375	chr10:21845661-21845662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12414488	chr10:21845672-21845673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200529349	chr10:21845679-21845680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574990610	chr10:21845737-21845738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193253280	chr10:21845795-21845796	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528758338	chr10:21845830-21845831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185388808	chr10:21845854-21845855	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140739039	chr10:21845873-21845874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114159623	chr10:21845881-21845882	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74120974	chr10:21845905-21845906	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374654406	chr10:21845906-21845907	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376466641	chr10:21845925-21845926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs74120975	chr10:21846003-21846004	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569666270	chr10:21846012-21846013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535584822	chr10:21846027-21846028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548763480	chr10:21846048-21846049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368089141	chr10:21846089-21846090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201296732	chr10:21846090-21846091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558051099	chr10:21846114-21846115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577552662	chr10:21846176-21846177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7092670	chr10:21846181-21846182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546931308	chr10:21846208-21846209	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573686055	chr10:21846252-21846253	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543114479	chr10:21846279-21846280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113966224	chr10:21846317-21846318	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190674793	chr10:21846324-21846325	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs56865732	chr10:21846347-21846348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573405771	chr10:21846377-21846378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146988779	chr10:21846468-21846469	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568274526	chr10:21846493-21846494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565463618	chr10:21846533-21846534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs117672930	chr10:21846546-21846547	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551287547	chr10:21846555-21846556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs138079083	chr10:21846624-21846625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs116953508	chr10:21846733-21846734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549086111	chr10:21846736-21846737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572931047	chr10:21846769-21846770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540323852	chr10:21846820-21846821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr10:21824800-21852200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:21824800-21852200	Strong transcription	Fetal Intestine Small	intestine
5	chr10:21824800-21860200	Weak transcription	Psoas Muscle	Psoas
6	chr10:21825000-21850000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:21825200-21850600	Strong transcription	Fetal Stomach	stomach
8	chr10:21825200-21854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:21825600-21849800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:21825600-21850000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:21825600-21857800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:21825800-21856200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:21826200-21850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:21827800-21850800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:21828000-21851200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:21828000-21856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:21832000-21856400	Weak transcription	Colonic Mucosa	Colon
18	chr10:21832000-21876400	Weak transcription	Aorta	Aorta
19	chr10:21832200-21848000	Weak transcription	Esophagus	oesophagus
20	chr10:21832800-21856200	Weak transcription	Pancreas	Pancrea
21	chr10:21833400-21851200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:21833400-21856200	Weak transcription	Small Intestine	intestine
23	chr10:21833400-21856400	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:21833600-21848000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:21834400-21847800	Weak transcription	Brain Angular Gyrus	brain
26	chr10:21835200-21848000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:21835600-21850000	Strong transcription	Dnd41	blood
28	chr10:21835800-21850000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr10:21836600-21850000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:21837200-21847000	Strong transcription	Primary T cells from cord blood	blood
31	chr10:21837200-21849600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:21837600-21846800	Strong transcription	Adipose Nuclei	Adipose
33	chr10:21837600-21849800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:21837600-21850000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr10:21837600-21850400	Strong transcription	Fetal Muscle Leg	muscle
36	chr10:21837800-21846800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:21837800-21849800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:21837800-21849800	Strong transcription	Fetal Thymus	thymus
39	chr10:21838000-21847000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr10:21838000-21848400	Strong transcription	Fetal Intestine Large	intestine
41	chr10:21838000-21849800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr10:21838000-21850000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:21838200-21851400	Strong transcription	Placenta	Placenta
44	chr10:21838400-21848400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:21838800-21845800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr10:21839000-21864200	Weak transcription	Fetal Heart	heart
47	chr10:21839200-21859000	Weak transcription	Right Atrium	heart
48	chr10:21839400-21848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:21839400-21850000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:21839400-21851200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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