Variant report

Variant	esv3371640
Chromosome Location	chr10:779952-786250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:785654-785665	MCF-7	breast:	n/a	n/a
2	CTCF	chr10:785780-785930	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:785624-785630	MCF-7	breast:	n/a	n/a
4	EP300	chr10:780354-780880	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr10:780123-780869	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr10:779968-780893	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr10:780322-780697	SH-SY5Y	brain:	n/a	n/a
8	MAX	chr10:785611-785809	NB4	blood:	n/a	chr10:785731-785741 chr10:785743-785753
9	MYC	chr10:785691-785703	MCF-7	breast:	n/a	n/a
10	MYC	chr10:785411-785459	MCF-7	breast:	n/a	n/a
11	MYC	chr10:785461-785677	MCF-7	breast:	n/a	n/a
12	PBX3	chr10:780209-780799	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr10:780321-780668	SK-N-SH	brain:	n/a	n/a
14	SETDB1	chr10:780607-781045	U2OS	brain:	n/a	n/a
15	SUZ12	chr10:785281-785802	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr10:780126-780789	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr10:780132-780835	SK-N-SH	brain:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:782282-782332	HEEpiC	esophagus:	n/a
2	chr10:782282-782332	HEEpiC	esophagus:	n/a
3	chr10:782282-782332	GM12878	blood:	n/a
4	chr10:783591-783641	PANC-1	pancreas:	n/a
5	chr10:783312-783362	HIPEpiC	eye:	n/a
6	chr10:782282-782332	Hepatocyte	liver:	n/a
7	chr10:783312-783362	H1-hESC	embryonic stem cell:	embryo
8	chr10:782282-782332	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:782282-782332	HCM	heart:	n/a
10	chr10:783312-783362	BE2_C	brain:	n/a
11	chr10:783312-783362	PANC-1	pancreas:	n/a
12	chr10:783591-783641	IMR90	lung:	fetal
13	chr10:783591-783641	NH-A	brain:	n/a
14	chr10:782282-782332	HCF	heart:	n/a
15	chr10:783591-783641	SK-N-MC	brain:	n/a
16	chr10:783591-783641	NT2-D1	testis:	n/a
17	chr10:783591-783641	Jurkat	blood:	n/a
18	chr10:783591-783641	GM06990	blood:	n/a
19	chr10:783312-783362	NT2-D1	testis:	n/a
20	chr10:783591-783641	CMK	blood:	n/a
21	chr10:783312-783362	LNCaP	prostate:	n/a
22	chr10:782282-782332	NHBE	bronchial:	n/a
23	chr10:782282-782332	SK-N-MC	brain:	n/a
24	chr10:783312-783362	IMR90	lung:	fetal
25	chr10:783312-783362	ovcar-3	ovarian:	n/a
26	chr10:783591-783641	MCF10A-Er-Src	breast:	n/a
27	chr10:783591-783641	SK-N-SH	brain:	n/a
28	chr10:783312-783362	Caco-2	colon:	n/a
29	chr10:783312-783362	SKMC	muscle:	n/a
30	chr10:783312-783362	GM06990	blood:	n/a
31	chr10:783591-783641	NHBE	bronchial:	n/a
32	chr10:782282-782332	ECC-1	luminal epithelium:	n/a
33	chr10:782282-782332	NHDF-neo	bronchial:	n/a
34	chr10:783312-783362	HepG2	liver:	n/a
35	chr10:783312-783362	SAEC	small airway:	n/a
36	chr10:782282-782332	MCF10A-Er-Src	breast:	n/a
37	chr10:782282-782332	IMR90	lung:	fetal
38	chr10:782282-782332	PFSK-1	brain:	n/a
39	chr10:782282-782332	AG09319	gingival:	n/a
40	chr10:783312-783362	ECC-1	luminal epithelium:	n/a
41	chr10:783312-783362	RPTEC	kidney:	n/a
42	chr10:783591-783641	U87	brain:	n/a
43	chr10:783591-783641	HCM	heart:	n/a
44	chr10:783591-783641	LNCaP	prostate:	n/a
45	chr10:782282-782332	HMEC	breast:	n/a
46	chr10:783591-783641	ovcar-3	ovarian:	n/a
47	chr10:782282-782332	GM06990	blood:	n/a
48	chr10:783591-783641	H1-hESC	embryonic stem cell:	embryo
49	chr10:783591-783641	HepG2	liver:	n/a
50	chr10:783591-783641	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:783561..786479-chr10:789093..790752,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-6	chr10:779932-779973	NONHSAT010872
2	lnc-C10orf108-6	chr10:780517-780898	NONHSAT010872

No data

Variant related genes	Relation type
ENSG00000231601	TF binding region
ENSG00000231601	CpG island
ENSG00000231601	chromatin interactions

Extended variants
information (count: 430 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140243003	chr10:780031-780032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182137867	chr10:780060-780061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12255536	chr10:780099-780100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4881513	chr10:780125-780126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186022989	chr10:780207-780208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190346687	chr10:780283-780284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2265092	chr10:780293-780294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182762410	chr10:780328-780329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7098567	chr10:780394-780395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535433514	chr10:780463-780464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554462253	chr10:780464-780465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574353731	chr10:780488-780489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113507864	chr10:780499-780500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531689012	chr10:780510-780511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201541712	chr10:780552-780553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs71376859	chr10:780567-780568	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs185580611	chr10:780647-780648	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548305372	chr10:780663-780664	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149928250	chr10:780688-780689	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs147624066	chr10:780702-780703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs562586562	chr10:780707-780708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs111463213	chr10:780708-780709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191074181	chr10:780787-780788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs35063135	chr10:780810-780811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541813177	chr10:780832-780833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142247808	chr10:780849-780850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs527942305	chr10:780881-780882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs115005778	chr10:780882-780883	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs571000840	chr10:780890-780891	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs372525172	chr10:780894-780895	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs182368345	chr10:780915-780916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550036333	chr10:780920-780921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568099939	chr10:780965-780966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2265093	chr10:780988-780989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4881515	chr10:781002-781003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568015066	chr10:781023-781024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189250404	chr10:781056-781057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34142888	chr10:781083-781084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374694671	chr10:781084-781085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114747709	chr10:781091-781092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576997612	chr10:781118-781119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2246654	chr10:781124-781125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556310346	chr10:781159-781160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556389662	chr10:781172-781173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77861402	chr10:781188-781189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76948303	chr10:781189-781190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576166674	chr10:781214-781215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368367814	chr10:781234-781235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201529984	chr10:781239-781240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76793293	chr10:781248-781249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:779400-785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:779600-785200	Weak transcription	Gastric	stomach
3	chr10:784000-790600	Weak transcription	Spleen	Spleen
4	chr10:785200-785600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:785200-785600	ZNF genes & repeats	Gastric	stomach
6	chr10:785200-785800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr10:785400-785600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:785400-785600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:785400-785600	ZNF genes & repeats	Pancreas	Pancrea
10	chr10:785400-785600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr10:785400-785600	Bivalent Enhancer	Hela-S3	cervix

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