Variant report

Variant	nsv1040916
Chromosome Location	chr10:28558982-28579141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:305)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:28573101-28573785	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:28574787-28574987	IMR90	lung:	n/a	n/a
3	CEBPB	chr10:28568577-28568605	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr10:28568482-28568666	K562	blood:	n/a	n/a
5	CEBPB	chr10:28568537-28568677	A549	lung:	n/a	n/a
6	CTCF	chr10:28565854-28565958	GM10248	blood:	n/a	n/a
7	CTCF	chr10:28569620-28569770	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr10:28569620-28569770	AG04449	skin:	n/a	n/a
9	CTCF	chr10:28569640-28569790	AG04449	skin:	n/a	n/a
10	CTCF	chr10:28569647-28569700	ProgFib	skin:	n/a	n/a
11	CTCF	chr10:28569614-28569726	Gliobla	brain:	n/a	n/a
12	CTCF	chr10:28574134-28574250	GM13976	blood:	n/a	n/a
13	CUX1	chr10:28567752-28567792	GM12878	blood:	n/a	n/a
14	CUX1	chr10:28565477-28565500	GM12878	blood:	n/a	n/a
15	ELF1	chr10:28572885-28573596	MCF-7	breast:	n/a	n/a
16	EP300	chr10:28572911-28573632	T-47D	breast:	n/a	n/a
17	EP300	chr10:28573006-28573473	T-47D	breast:	n/a	n/a
18	ESR1	chr10:28572979-28573461	T-47D	breast:	n/a	n/a
19	ESR1	chr10:28573006-28573459	T-47D	breast:	n/a	n/a
20	ESR1	chr10:28573050-28573385	T-47D	breast:	n/a	n/a
21	ESR1	chr10:28573000-28573395	T-47D	breast:	n/a	n/a
22	FOXA1	chr10:28565261-28565735	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:28563439-28563701	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:28563456-28563700	HepG2	liver:	n/a	n/a
25	FOXA1	chr10:28572966-28573387	HepG2	liver:	n/a	n/a
26	FOXA1	chr10:28563368-28563708	HepG2	liver:	n/a	chr10:28563434-28563446
27	FOXA1	chr10:28573066-28573432	HepG2	liver:	n/a	n/a
28	FOXA1	chr10:28563494-28563708	T-47D	breast:	n/a	n/a
29	FOXA1	chr10:28572271-28572527	T-47D	breast:	n/a	n/a
30	FOXA1	chr10:28563417-28563653	T-47D	breast:	n/a	chr10:28563434-28563446
31	FOXA1	chr10:28572936-28573768	HepG2	liver:	n/a	n/a
32	FOXA1	chr10:28572280-28572505	T-47D	breast:	n/a	n/a
33	FOXA1	chr10:28565280-28565687	HepG2	liver:	n/a	n/a
34	FOXA1	chr10:28572961-28573468	T-47D	breast:	n/a	n/a
35	FOXA1	chr10:28573043-28573502	T-47D	breast:	n/a	n/a
36	FOXA1	chr10:28565281-28565686	HepG2	liver:	n/a	n/a
37	FOXA1	chr10:28573046-28573442	HepG2	liver:	n/a	n/a
38	FOXA2	chr10:28565311-28565650	HepG2	liver:	n/a	n/a
39	FOXA2	chr10:28573024-28573390	HepG2	liver:	n/a	n/a
40	FOXA2	chr10:28563479-28563666	HepG2	liver:	n/a	n/a
41	FOXA2	chr10:28572744-28573470	HepG2	liver:	n/a	n/a
42	GATA3	chr10:28572813-28573727	MCF-7	breast:	n/a	n/a
43	GATA3	chr10:28572904-28573714	MCF-7	breast:	n/a	n/a
44	GATA3	chr10:28572978-28573564	T-47D	breast:	n/a	n/a
45	GATA3	chr10:28573037-28573392	MCF-7	breast:	n/a	n/a
46	GATA3	chr10:28570873-28571263	T-47D	breast:	n/a	n/a
47	GATA3	chr10:28572960-28573523	T-47D	breast:	n/a	n/a
48	GATA3	chr10:28560402-28560757	T-47D	breast:	n/a	n/a
49	HDAC2	chr10:28572986-28573526	MCF-7	breast:	n/a	chr10:28573424-28573438 chr10:28573420-28573434
50	HDAC2	chr10:28572993-28573610	MCF-7	breast:	n/a	chr10:28573424-28573438 chr10:28573420-28573434

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:28571848-28571898	NH-A	brain:	n/a
2	chr10:28571582-28571632	HCF	heart:	n/a
3	chr10:28570835-28570885	PANC-1	pancreas:	n/a
4	chr10:28571186-28571236	LNCaP	prostate:	n/a
5	chr10:28571322-28571372	HRCEpiC	kidney:	n/a
6	chr10:28571848-28571898	AG04450	lung:	fetal
7	chr10:28571848-28571898	Jurkat	blood:	n/a
8	chr10:28570835-28570885	GM06990	blood:	n/a
9	chr10:28570835-28570885	ovcar-3	ovarian:	n/a
10	chr10:28571186-28571236	NH-A	brain:	n/a
11	chr10:28571848-28571898	Hepatocyte	liver:	n/a
12	chr10:28571848-28571898	GM12892	blood:	n/a
13	chr10:28571582-28571632	Jurkat	blood:	n/a
14	chr10:28571582-28571632	CMK	blood:	n/a
15	chr10:28571186-28571236	SK-N-MC	brain:	n/a
16	chr10:28571186-28571236	HRE	kidney:	n/a
17	chr10:28571186-28571236	MCF10A-Er-Src	breast:	n/a
18	chr10:28571848-28571898	HCT-116	colon:	n/a
19	chr10:28571322-28571372	A549	lung:	n/a
20	chr10:28570835-28570885	AG10803	skin:	n/a
21	chr10:28571582-28571632	GM12878	blood:	n/a
22	chr10:28571322-28571372	BJ	skin:	n/a
23	chr10:28570835-28570885	CMK	blood:	n/a
24	chr10:28571848-28571898	ProgFib	skin:	n/a
25	chr10:28570835-28570885	HEK293	kidney:	embryo
26	chr10:28571582-28571632	MCF10A-Er-Src	breast:	n/a
27	chr10:28571582-28571632	BJ	skin:	n/a
28	chr10:28571848-28571898	Hela-S3	cervix:	n/a
29	chr10:28571848-28571898	PANC-1	pancreas:	n/a
30	chr10:28571322-28571372	NH-A	brain:	n/a
31	chr10:28571322-28571372	PrEC	prostate:	n/a
32	chr10:28571848-28571898	HPAEpiC	pulmonary alveolar:	n/a
33	chr10:28571322-28571372	PANC-1	pancreas:	n/a
34	chr10:28571582-28571632	HMEC	breast:	n/a
35	chr10:28571322-28571372	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:28571582-28571632	AoSMC	blood vessel:	n/a
37	chr10:28571582-28571632	ECC-1	luminal epithelium:	n/a
38	chr10:28571322-28571372	MCF-7	breast:	n/a
39	chr10:28571322-28571372	HIPEpiC	eye:	n/a
40	chr10:28571848-28571898	HAEpiC	amniotic membrane:	n/a
41	chr10:28571322-28571372	ProgFib	skin:	n/a
42	chr10:28571582-28571632	AG09309	skin:	n/a
43	chr10:28571848-28571898	AoSMC	blood vessel:	n/a
44	chr10:28570835-28570885	BE2_C	brain:	n/a
45	chr10:28571186-28571236	GM12878	blood:	n/a
46	chr10:28570835-28570885	K562	blood:	n/a
47	chr10:28570835-28570885	SKMC	muscle:	n/a
48	chr10:28571582-28571632	HCT-116	colon:	n/a
49	chr10:28570835-28570885	MCF10A-Er-Src	breast:	n/a
50	chr10:28571186-28571236	AG09309	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:28558711..28561125-chr10:28592241..28593804,2	MCF-7	breast:
2	chr10:28571543..28573303-chr10:28575111..28577967,2	MCF-7	breast:
3	chr10:28554627..28557349-chr10:28572149..28574726,2	MCF-7	breast:
4	chr10:28546305..28548729-chr10:28573221..28575070,2	MCF-7	breast:
5	chr10:28555334..28557134-chr10:28559032..28561052,2	K562	blood:
6	chr10:28564267..28567183-chr10:28578724..28581652,3	MCF-7	breast:
7	chr10:28564267..28567183-chr10:28578724..28581652,3	MCF-7	breast:
8	chr10:28571543..28573303-chr10:28575111..28577967,2	MCF-7	breast:
9	chr10:28554682..28556486-chr10:28574647..28577127,2	MCF-7	breast:
10	chr10:28570371..28575406-chr10:28590076..28593528,7	MCF-7	breast:
11	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
12	chr10:28542308..28543962-chr10:28578219..28580065,2	MCF-7	breast:
13	chr10:28563819..28566589-chr10:28585546..28588280,2	MCF-7	breast:
14	chr10:28567822..28570184-chr10:28571377..28572911,2	MCF-7	breast:
15	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
16	chr10:28566640..28568804-chr10:28569342..28571331,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8086	chr10:28578248-28578269	MIMAT0031013

No data

Variant related genes	Relation type
MPP7	TF binding region
MPP7	CpG island
ENSG00000150054	chromatin interactions

Extended variants
information (count: 772 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150221245	chr10:28559001-28559002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570778089	chr10:28559008-28559009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74129037	chr10:28559047-28559048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12359994	chr10:28559092-28559093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189577543	chr10:28559115-28559116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12358399	chr10:28559120-28559121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181115250	chr10:28559182-28559183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202171941	chr10:28559261-28559262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575868180	chr10:28559272-28559273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546523533	chr10:28559315-28559316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137971846	chr10:28559347-28559348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576781776	chr10:28559381-28559382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61845920	chr10:28559435-28559436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559213786	chr10:28559441-28559442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61541902	chr10:28559449-28559450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370313740	chr10:28559462-28559463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74686639	chr10:28559468-28559469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71391026	chr10:28559472-28559473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61845921	chr10:28559510-28559511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113504392	chr10:28559531-28559532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186105013	chr10:28559608-28559609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191006098	chr10:28559611-28559612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116490411	chr10:28559624-28559625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552201956	chr10:28559655-28559656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570707907	chr10:28559773-28559774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370792147	chr10:28559785-28559786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528504303	chr10:28559816-28559817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540852772	chr10:28559868-28559869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3847384	chr10:28559892-28559893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72803692	chr10:28559904-28559905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs3847385	chr10:28559909-28559910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183502541	chr10:28559942-28559943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569496110	chr10:28559943-28559944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539990869	chr10:28559998-28559999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375379309	chr10:28560026-28560027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573463076	chr10:28560027-28560028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78664659	chr10:28560039-28560040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79120480	chr10:28560040-28560041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78719866	chr10:28560041-28560042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534369757	chr10:28560046-28560047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563703863	chr10:28560091-28560092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28431063	chr10:28560204-28560205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574045056	chr10:28560252-28560253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144816589	chr10:28560256-28560257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186387385	chr10:28560275-28560276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386742330	chr10:28560349-28560350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7086807	chr10:28560351-28560352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190890553	chr10:28560360-28560361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564269666	chr10:28560392-28560393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183052234	chr10:28560415-28560416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28550400-28582600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:28550600-28562400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr10:28550600-28562600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:28550600-28563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr10:28551400-28563600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:28552800-28559000	Weak transcription	Aorta	Aorta
7	chr10:28553000-28559200	Weak transcription	Fetal Stomach	stomach
8	chr10:28553000-28570800	Weak transcription	Esophagus	oesophagus
9	chr10:28553200-28568400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:28553400-28569600	Weak transcription	Pancreas	Pancrea
11	chr10:28553800-28563400	Weak transcription	HepG2	liver
12	chr10:28556000-28562200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:28556000-28563400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:28556200-28563400	Weak transcription	Primary T cells from cord blood	blood
15	chr10:28556200-28563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:28556200-28570800	Weak transcription	Primary B cells from cord blood	blood
17	chr10:28556400-28563800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:28556400-28571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:28557600-28567800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:28557800-28568000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:28558200-28559200	Enhancers	NHEK	skin
22	chr10:28558200-28568200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:28558800-28560400	Enhancers	Fetal Heart	heart
24	chr10:28559000-28559200	Enhancers	Aorta	Aorta
25	chr10:28559000-28559400	Enhancers	Placenta	Placenta
26	chr10:28559200-28560000	Enhancers	Fetal Stomach	stomach
27	chr10:28559200-28560200	Weak transcription	NHEK	skin
28	chr10:28559600-28560400	Enhancers	Colon Smooth Muscle	Colon
29	chr10:28559600-28570800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:28559800-28560600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:28560200-28560400	Enhancers	NHEK	skin
32	chr10:28560200-28560600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:28560400-28563400	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:28560400-28567800	Weak transcription	Fetal Heart	heart
35	chr10:28562200-28562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:28562400-28562600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr10:28562400-28562600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr10:28562600-28562800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:28562600-28563400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:28562600-28563800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:28562600-28570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:28562800-28563000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:28563400-28564000	Enhancers	HepG2	liver
44	chr10:28563400-28564200	Enhancers	Primary T cells from cord blood	blood
45	chr10:28563400-28564200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr10:28563400-28564200	Enhancers	Colon Smooth Muscle	Colon
47	chr10:28563400-28564800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr10:28563400-28565000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr10:28563600-28564400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr10:28563600-28564800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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