Variant report

Variant	nsv894719
Chromosome Location	chr10:767395-813426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:1038)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:813001-813370	K562	blood:	n/a	n/a
2	BCL11A	chr10:769301-769535	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:811979-812582	GM12878	blood:	n/a	n/a
4	BCL3	chr10:812586-812912	GM12878	blood:	n/a	n/a
5	BHLHE40	chr10:769894-770344	K562	blood:	n/a	n/a
6	BHLHE40	chr10:769085-769382	K562	blood:	n/a	n/a
7	CBX3	chr10:769860-770105	K562	blood:	n/a	n/a
8	CBX3	chr10:806640-806884	K562	blood:	n/a	n/a
9	CEBPB	chr10:776514-776865	HepG2	liver:	n/a	chr10:776667-776678
10	CEBPB	chr10:776582-776736	Hela-S3	cervix:	n/a	chr10:776667-776678
11	CEBPB	chr10:799560-799705	K562	blood:	n/a	n/a
12	CEBPB	chr10:776512-776828	A549	lung:	n/a	chr10:776667-776678
13	CEBPB	chr10:799626-799733	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:776542-776771	H1-hESC	embryonic stem cell:	n/a	chr10:776667-776678
15	CTCF	chr10:769512-769567	LNCaP	prostate:	n/a	n/a
16	CTCF	chr10:775240-775390	Caco-2	colon:	n/a	n/a
17	CTCF	chr10:785780-785930	MCF-7	breast:	n/a	n/a
18	CTCF	chr10:773380-773530	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:798402-798426	GM10266	blood:	n/a	n/a
20	CTCF	chr10:785654-785665	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:788807-788881	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr10:785624-785630	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:805940-806090	GM12867	blood:	n/a	n/a
24	CTCF	chr10:769672-769745	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr10:804071-804155	K562	blood:	n/a	n/a
26	CTCF	chr10:775310-775349	Lung_OC	lung:	n/a	n/a
27	CTCF	chr10:806040-806190	GM12869	blood:	n/a	n/a
28	CTCF	chr10:769293-769332	GM20000	blood:	n/a	n/a
29	EGR1	chr10:769048-770116	GM12878	blood:	n/a	n/a
30	EP300	chr10:780354-780880	SK-N-SH	brain:	n/a	n/a
31	FOXA1	chr10:773011-773772	T-47D	breast:	n/a	n/a
32	FOXA1	chr10:773424-773698	T-47D	breast:	n/a	n/a
33	FOXA1	chr10:804560-804781	T-47D	breast:	n/a	n/a
34	FOXA1	chr10:792166-792474	HepG2	liver:	n/a	n/a
35	FOXA2	chr10:792162-792455	A549	lung:	n/a	n/a
36	FOXA2	chr10:804073-804273	A549	lung:	n/a	n/a
37	FOXA2	chr10:792068-792490	A549	lung:	n/a	n/a
38	GATA3	chr10:779968-780893	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr10:780123-780869	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr10:773027-773811	T-47D	breast:	n/a	n/a
41	GATA3	chr10:773038-773730	T-47D	breast:	n/a	n/a
42	GATA3	chr10:780322-780697	SH-SY5Y	brain:	n/a	n/a
43	IRF4	chr10:769337-769847	GM12878	blood:	n/a	n/a
44	IRF4	chr10:772192-772527	GM12878	blood:	n/a	n/a
45	JUN	chr10:806696-806896	K562	blood:	n/a	n/a
46	KAP1	chr10:791601-792092	HEK293	kidney:	n/a	n/a
47	KAP1	chr10:806581-807152	K562	blood:	n/a	n/a
48	MAFF	chr10:807985-808185	HepG2	liver:	n/a	chr10:808063-808081
49	MAFK	chr10:807978-808188	HepG2	liver:	n/a	chr10:808064-808079
50	MAFK	chr10:807917-808216	HepG2	liver:	n/a	chr10:808064-808079

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:771624-771674	HEEpiC	esophagus:	n/a
2	chr10:771624-771674	HEEpiC	esophagus:	n/a
3	chr10:771624-771674	GM12892	blood:	n/a
4	chr10:768867-768917	AG04449	skin:	fetal
5	chr10:773101-773151	ProgFib	skin:	n/a
6	chr10:778219-778269	Caco-2	colon:	n/a
7	chr10:778219-778269	Jurkat	blood:	n/a
8	chr10:772600-772650	Hepatocyte	liver:	n/a
9	chr10:769945-769995	K562	blood:	n/a
10	chr10:783591-783641	Hepatocyte	liver:	n/a
11	chr10:783312-783362	Hela-S3	cervix:	n/a
12	chr10:773101-773151	BJ	skin:	n/a
13	chr10:778073-778123	HAEpiC	amniotic membrane:	n/a
14	chr10:783591-783641	U87	brain:	n/a
15	chr10:773141-773191	NHDF-neo	bronchial:	n/a
16	chr10:783591-783641	ovcar-3	ovarian:	n/a
17	chr10:775353-775403	GM06990	blood:	n/a
18	chr10:778219-778269	ovcar-3	ovarian:	n/a
19	chr10:772600-772650	ProgFib	skin:	n/a
20	chr10:772969-773019	NT2-D1	testis:	n/a
21	chr10:772969-773019	K562	blood:	n/a
22	chr10:775353-775403	AG09319	gingival:	n/a
23	chr10:768541-768591	HepG2	liver:	n/a
24	chr10:771624-771674	ovcar-3	ovarian:	n/a
25	chr10:773141-773191	HCF	heart:	n/a
26	chr10:768541-768591	HPAEpiC	pulmonary alveolar:	n/a
27	chr10:772600-772650	BJ	skin:	n/a
28	chr10:773141-773191	HUVEC	blood vessel:	n/a
29	chr10:768867-768917	Jurkat	blood:	n/a
30	chr10:778709-778759	RPTEC	kidney:	n/a
31	chr10:772600-772650	NT2-D1	testis:	n/a
32	chr10:772323-772373	Jurkat	blood:	n/a
33	chr10:773101-773151	H1-hESC	embryonic stem cell:	embryo
34	chr10:771624-771674	GM19239	blood:	n/a
35	chr10:768867-768917	NT2-D1	testis:	n/a
36	chr10:773101-773151	GM19239	blood:	n/a
37	chr10:778123-778173	HL-60	blood:	n/a
38	chr10:773141-773191	A549	lung:	n/a
39	chr10:775353-775403	MCF-7	breast:	n/a
40	chr10:771624-771674	ECC-1	luminal epithelium:	n/a
41	chr10:775353-775403	HIPEpiC	eye:	n/a
42	chr10:778123-778173	GM12892	blood:	n/a
43	chr10:769945-769995	T-47D	breast:	n/a
44	chr10:769945-769995	GM12878	blood:	n/a
45	chr10:783591-783641	HNPCEpiC	eye:	n/a
46	chr10:778709-778759	AG04450	lung:	fetal
47	chr10:769945-769995	PrEC	prostate:	n/a
48	chr10:778709-778759	HEEpiC	esophagus:	n/a
49	chr10:783591-783641	HRE	kidney:	n/a
50	chr10:773101-773151	HCM	heart:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:757872..760729-chr10:776939..779568,2	MCF-7	breast:
2	chr10:762176..765127-chr10:765238..767512,2	MCF-7	breast:
3	chr10:778218..778758-chr10:824666..825446,2	MCF-7	breast:
4	chr10:783561..786479-chr10:789093..790752,2	MCF-7	breast:
5	chr10:778218..778962-chr10:824579..825446,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-4	chr10:790517-790898	XLOC_008335
2	lnc-C10orf108-4	chr10:789932-789973	XLOC_008335
3	lnc-C10orf108-6	chr10:780517-780898	NONHSAT010872
4	lnc-C10orf108-6	chr10:779932-779973	NONHSAT010872

No data

Variant related genes	Relation type
ENSG00000231601	TF binding region
ENSG00000231601	CpG island
ENSG00000231601	chromatin interactions
SEC23IP	miRNA target sites
SEC24A	miRNA target sites

Extended variants
information (count: 2082 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs816318	chr10:767395-767396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376137140	chr10:767402-767403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540800658	chr10:767412-767413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560558841	chr10:767427-767428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7475589	chr10:767479-767480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552340856	chr10:767485-767486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58516421	chr10:767496-767497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4504989	chr10:767508-767509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4636581	chr10:767516-767517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548623914	chr10:767524-767525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561644751	chr10:767536-767537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536186608	chr10:767545-767546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183731440	chr10:767546-767547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189267369	chr10:767553-767554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538831131	chr10:767570-767571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558328764	chr10:767577-767578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575010987	chr10:767592-767593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543779679	chr10:767615-767616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67676753	chr10:767623-767624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4596995	chr10:767630-767631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574778821	chr10:767637-767638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4414142	chr10:767639-767640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4568924	chr10:767640-767641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577325032	chr10:767641-767642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546391610	chr10:767642-767643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562939270	chr10:767645-767646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531870154	chr10:767646-767647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548587093	chr10:767674-767675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562103667	chr10:767705-767706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151011252	chr10:767727-767728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181752215	chr10:767729-767730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140907999	chr10:767730-767731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538421687	chr10:767731-767732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61214572	chr10:767736-767737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186032838	chr10:767744-767745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190354836	chr10:767752-767753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138169262	chr10:767762-767763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141286881	chr10:767773-767774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533790156	chr10:767774-767775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533899680	chr10:767775-767776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182750288	chr10:767776-767777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577484820	chr10:767780-767781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78655297	chr10:767820-767821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563109197	chr10:767840-767841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577026233	chr10:767889-767890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576600171	chr10:767908-767909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542388935	chr10:767953-767954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375415859	chr10:767969-767970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527647790	chr10:768051-768052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547785415	chr10:768076-768077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:761000-768200	Weak transcription	Placenta	Placenta
2	chr10:761000-768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:764800-772000	Weak transcription	Right Atrium	heart
4	chr10:767800-768400	Weak transcription	Spleen	Spleen
5	chr10:768200-768600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:768200-769000	Enhancers	Placenta	Placenta
7	chr10:768400-768600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:768400-768600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:768400-768600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:768400-768600	Genic enhancers	Spleen	Spleen
11	chr10:768600-768800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:768600-770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:768600-771400	Weak transcription	Spleen	Spleen
14	chr10:769000-771600	Weak transcription	Placenta	Placenta
15	chr10:770000-770200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:770000-770200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:770000-770400	Enhancers	Pancreas	Pancrea
18	chr10:770200-771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:770800-771000	Weak transcription	Esophagus	oesophagus
20	chr10:770800-772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:771400-771600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:771400-772200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:771400-772200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr10:771400-772200	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:771400-772200	Enhancers	Fetal Muscle Leg	muscle
26	chr10:771400-772200	Enhancers	Spleen	Spleen
27	chr10:771400-773000	Enhancers	Right Ventricle	heart
28	chr10:771600-771800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:771600-772000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:771600-772200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:771600-774800	Enhancers	Placenta	Placenta
32	chr10:771800-772200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:771800-772400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr10:772000-772200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:772000-772200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:772000-772200	Enhancers	Esophagus	oesophagus
37	chr10:772000-773400	Strong transcription	Right Atrium	heart
38	chr10:772200-772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:772400-772800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr10:772600-773000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:772800-773200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:772800-773600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr10:773000-775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:773400-775200	Weak transcription	Right Atrium	heart
45	chr10:774600-774800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:774600-774800	Enhancers	Right Ventricle	heart
47	chr10:774600-775400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr10:774600-775600	Enhancers	Duodenum Mucosa	Duodenum
49	chr10:775200-775400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:775400-775600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum

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