Variant report

Variant	nsv466856
Chromosome Location	chr10:28562647-28571860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:305)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:28568577-28568605	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:28568482-28568666	K562	blood:	n/a	n/a
3	CEBPB	chr10:28568537-28568677	A549	lung:	n/a	n/a
4	CTCF	chr10:28569647-28569700	ProgFib	skin:	n/a	n/a
5	CTCF	chr10:28565854-28565958	GM10248	blood:	n/a	n/a
6	CTCF	chr10:28569640-28569790	AG04449	skin:	n/a	n/a
7	CTCF	chr10:28569620-28569770	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr10:28569614-28569726	Gliobla	brain:	n/a	n/a
9	CTCF	chr10:28569620-28569770	AG04449	skin:	n/a	n/a
10	CUX1	chr10:28565477-28565500	GM12878	blood:	n/a	n/a
11	CUX1	chr10:28567752-28567792	GM12878	blood:	n/a	n/a
12	FOXA1	chr10:28565280-28565687	HepG2	liver:	n/a	n/a
13	FOXA1	chr10:28565281-28565686	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:28563417-28563653	T-47D	breast:	n/a	chr10:28563434-28563446
15	FOXA1	chr10:28565261-28565735	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:28563368-28563708	HepG2	liver:	n/a	chr10:28563434-28563446
17	FOXA1	chr10:28563494-28563708	T-47D	breast:	n/a	n/a
18	FOXA1	chr10:28563456-28563700	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:28563439-28563701	HepG2	liver:	n/a	n/a
20	FOXA2	chr10:28563479-28563666	HepG2	liver:	n/a	n/a
21	FOXA2	chr10:28565311-28565650	HepG2	liver:	n/a	n/a
22	GATA3	chr10:28570873-28571263	T-47D	breast:	n/a	n/a
23	MAFK	chr10:28569644-28569962	IMR90	lung:	n/a	n/a
24	POLR2A	chr10:28566268-28566335	MCF10A-Er-Src	breast:	n/a	n/a
25	ZKSCAN1	chr10:28564845-28565019	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:28570835-28570885	ECC-1	luminal epithelium:	n/a
2	chr10:28570835-28570885	NHDF-neo	bronchial:	n/a
3	chr10:28571848-28571898	RPTEC	kidney:	n/a
4	chr10:28571848-28571898	Caco-2	colon:	n/a
5	chr10:28570835-28570885	T-47D	breast:	n/a
6	chr10:28571848-28571898	GM12892	blood:	n/a
7	chr10:28571582-28571632	IMR90	lung:	fetal
8	chr10:28571848-28571898	ProgFib	skin:	n/a
9	chr10:28570835-28570885	NT2-D1	testis:	n/a
10	chr10:28571582-28571632	PrEC	prostate:	n/a
11	chr10:28571186-28571236	PrEC	prostate:	n/a
12	chr10:28571848-28571898	CMK	blood:	n/a
13	chr10:28571322-28571372	HRE	kidney:	n/a
14	chr10:28571582-28571632	HNPCEpiC	eye:	n/a
15	chr10:28571848-28571898	BJ	skin:	n/a
16	chr10:28571322-28571372	ProgFib	skin:	n/a
17	chr10:28571582-28571632	GM12892	blood:	n/a
18	chr10:28571322-28571372	PFSK-1	brain:	n/a
19	chr10:28571848-28571898	AG09309	skin:	n/a
20	chr10:28571322-28571372	Jurkat	blood:	n/a
21	chr10:28571582-28571632	HL-60	blood:	n/a
22	chr10:28571848-28571898	H1-hESC	embryonic stem cell:	embryo
23	chr10:28571582-28571632	HAEpiC	amniotic membrane:	n/a
24	chr10:28571322-28571372	IMR90	lung:	fetal
25	chr10:28571582-28571632	SK-N-SH	brain:	n/a
26	chr10:28571582-28571632	ovcar-3	ovarian:	n/a
27	chr10:28571322-28571372	GM12892	blood:	n/a
28	chr10:28570835-28570885	HNPCEpiC	eye:	n/a
29	chr10:28571582-28571632	AG09319	gingival:	n/a
30	chr10:28571322-28571372	HCPEpiC	choroid plexus:	n/a
31	chr10:28571322-28571372	SAEC	small airway:	n/a
32	chr10:28571322-28571372	HCM	heart:	n/a
33	chr10:28571582-28571632	K562	blood:	n/a
34	chr10:28571186-28571236	HRCEpiC	kidney:	n/a
35	chr10:28571322-28571372	PrEC	prostate:	n/a
36	chr10:28571322-28571372	ECC-1	luminal epithelium:	n/a
37	chr10:28570835-28570885	AG09319	gingival:	n/a
38	chr10:28571582-28571632	MCF-7	breast:	n/a
39	chr10:28571186-28571236	NT2-D1	testis:	n/a
40	chr10:28571582-28571632	SAEC	small airway:	n/a
41	chr10:28571322-28571372	HRPEpiC	eye:	n/a
42	chr10:28571582-28571632	HEEpiC	esophagus:	n/a
43	chr10:28571582-28571632	NHBE	bronchial:	n/a
44	chr10:28571848-28571898	HCM	heart:	n/a
45	chr10:28571322-28571372	Hela-S3	cervix:	n/a
46	chr10:28570835-28570885	HepG2	liver:	n/a
47	chr10:28571848-28571898	AG09319	gingival:	n/a
48	chr10:28570835-28570885	AoSMC	blood vessel:	n/a
49	chr10:28570835-28570885	HCF	heart:	n/a
50	chr10:28571322-28571372	LNCaP	prostate:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:28564267..28567183-chr10:28578724..28581652,3	MCF-7	breast:
2	chr10:28566640..28568804-chr10:28569342..28571331,2	MCF-7	breast:
3	chr10:28563819..28566589-chr10:28585546..28588280,2	MCF-7	breast:
4	chr10:28567822..28570184-chr10:28571377..28572911,2	MCF-7	breast:
5	chr10:28570371..28575406-chr10:28590076..28593528,7	MCF-7	breast:
6	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
7	chr10:28571543..28573303-chr10:28575111..28577967,2	MCF-7	breast:

No data

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

Extended variants
information (count: 352 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:352 , 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	rs7078842	chr10:28562647-28562648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576256348	chr10:28562652-28562653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543637243	chr10:28562770-28562771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187848725	chr10:28562786-28562787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11006975	chr10:28562876-28562877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150535645	chr10:28562881-28562882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560197464	chr10:28562895-28562896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72487495	chr10:28562896-28562897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61267137	chr10:28562906-28562907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376592401	chr10:28562923-28562924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549129907	chr10:28562927-28562928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35414047	chr10:28562938-28562939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78561960	chr10:28562969-28562970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538081690	chr10:28562999-28563000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549708690	chr10:28563023-28563024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35792600	chr10:28563024-28563025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377115486	chr10:28563030-28563031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571374719	chr10:28563036-28563037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60127503	chr10:28563049-28563050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140441510	chr10:28563110-28563111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61845936	chr10:28563153-28563154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111521570	chr10:28563157-28563158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536224707	chr10:28563175-28563176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11819234	chr10:28563188-28563189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576118547	chr10:28563192-28563193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1249641	chr10:28563213-28563214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147937433	chr10:28563221-28563222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1249640	chr10:28563222-28563223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190193767	chr10:28563245-28563246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568275128	chr10:28563271-28563272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577325597	chr10:28563296-28563297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140157412	chr10:28563306-28563307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80017113	chr10:28563317-28563318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527320914	chr10:28563319-28563320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542637211	chr10:28563343-28563344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561014119	chr10:28563379-28563380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374746549	chr10:28563415-28563416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551924134	chr10:28563423-28563424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549808036	chr10:28563440-28563441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571369407	chr10:28563449-28563450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375093287	chr10:28563472-28563473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11813709	chr10:28563473-28563474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565623185	chr10:28563474-28563475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374158285	chr10:28563501-28563502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536287059	chr10:28563506-28563507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554539470	chr10:28563509-28563510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145153047	chr10:28563542-28563543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537156050	chr10:28563650-28563651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558972719	chr10:28563652-28563653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75580747	chr10:28563655-28563656	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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28550400-28582600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:28550600-28563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:28551400-28563600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr10:28553000-28570800	Weak transcription	Esophagus	oesophagus
5	chr10:28553200-28568400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:28553400-28569600	Weak transcription	Pancreas	Pancrea
7	chr10:28553800-28563400	Weak transcription	HepG2	liver
8	chr10:28556000-28563400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:28556200-28563400	Weak transcription	Primary T cells from cord blood	blood
10	chr10:28556200-28563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:28556200-28570800	Weak transcription	Primary B cells from cord blood	blood
12	chr10:28556400-28563800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:28556400-28571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:28557600-28567800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:28557800-28568000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr10:28558200-28568200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:28559600-28570800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:28560400-28563400	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:28560400-28567800	Weak transcription	Fetal Heart	heart
20	chr10:28562600-28562800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:28562600-28563400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:28562600-28563800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr10:28562600-28570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:28562800-28563000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:28563400-28564000	Enhancers	HepG2	liver
26	chr10:28563400-28564200	Enhancers	Primary T cells from cord blood	blood
27	chr10:28563400-28564200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:28563400-28564200	Enhancers	Colon Smooth Muscle	Colon
29	chr10:28563400-28564800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr10:28563400-28565000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:28563600-28564400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr10:28563600-28564800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:28563800-28564000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:28563800-28564000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr10:28564000-28564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr10:28564000-28565200	Weak transcription	HepG2	liver
37	chr10:28564000-28573200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:28564200-28569400	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:28564200-28573200	Weak transcription	Primary T cells from cord blood	blood
40	chr10:28564400-28570800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:28564600-28564800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr10:28564800-28570800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:28564800-28572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:28564800-28573000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr10:28565000-28571000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:28565200-28566200	Enhancers	HepG2	liver
47	chr10:28565400-28568000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:28565800-28566200	Enhancers	Psoas Muscle	Psoas
49	chr10:28566200-28568000	Weak transcription	Psoas Muscle	Psoas
50	chr10:28566200-28571000	Weak transcription	HepG2	liver

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