Variant report

Variant	esv1850365
Chromosome Location	chr10:778640-785244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:245)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:780354-780880	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr10:779968-780893	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr10:780322-780697	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr10:780123-780869	SK-N-SH	brain:	n/a	n/a
5	MYC	chr10:779232-779263	MCF-7	breast:	n/a	n/a
6	PBX3	chr10:780209-780799	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr10:780321-780668	SK-N-SH	brain:	n/a	n/a
8	SETDB1	chr10:780607-781045	U2OS	brain:	n/a	n/a
9	SIN3A	chr10:778865-778880	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr10:780126-780789	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr10:780132-780835	SK-N-SH	brain:	n/a	n/a
12	TCF7L2	chr10:778458-779068	MCF-7	breast:	n/a	chr10:778792-778806
13	ZNF263	chr10:779032-779551	HEK293-T-REx	kidney:	n/a	chr10:779218-779239 chr10:779192-779213

(count:245 , 50 per page) page: 1 2 3 4 5

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	K562	blood:	n/a
4	chr10:783591-783641	HMEC	breast:	n/a
5	chr10:782282-782332	NB4	blood:	n/a
6	chr10:778709-778759	NB4	blood:	n/a
7	chr10:783591-783641	SK-N-SH_RA	brain:	n/a
8	chr10:783312-783362	HRE	kidney:	n/a
9	chr10:778709-778759	SAEC	small airway:	n/a
10	chr10:782282-782332	Caco-2	colon:	n/a
11	chr10:783312-783362	NHDF-neo	bronchial:	n/a
12	chr10:783591-783641	HRPEpiC	eye:	n/a
13	chr10:783312-783362	HNPCEpiC	eye:	n/a
14	chr10:782282-782332	AG04449	skin:	fetal
15	chr10:782282-782332	SK-N-SH_RA	brain:	n/a
16	chr10:778709-778759	HUVEC	blood vessel:	n/a
17	chr10:782282-782332	LNCaP	prostate:	n/a
18	chr10:783312-783362	Jurkat	blood:	n/a
19	chr10:783591-783641	H1-hESC	embryonic stem cell:	embryo
20	chr10:782282-782332	PANC-1	pancreas:	n/a
21	chr10:778709-778759	RPTEC	kidney:	n/a
22	chr10:783591-783641	GM12891	blood:	n/a
23	chr10:782282-782332	PFSK-1	brain:	n/a
24	chr10:783591-783641	LNCaP	prostate:	n/a
25	chr10:782282-782332	HCM	heart:	n/a
26	chr10:783312-783362	HCPEpiC	choroid plexus:	n/a
27	chr10:778709-778759	HepG2	liver:	n/a
28	chr10:783591-783641	HUVEC	blood vessel:	n/a
29	chr10:782282-782332	ECC-1	luminal epithelium:	n/a
30	chr10:783312-783362	HAEpiC	amniotic membrane:	n/a
31	chr10:783591-783641	HCF	heart:	n/a
32	chr10:783312-783362	BE2_C	brain:	n/a
33	chr10:783312-783362	HIPEpiC	eye:	n/a
34	chr10:778709-778759	LNCaP	prostate:	n/a
35	chr10:783591-783641	ProgFib	skin:	n/a
36	chr10:778709-778759	HCT-116	colon:	n/a
37	chr10:783591-783641	NT2-D1	testis:	n/a
38	chr10:783591-783641	HNPCEpiC	eye:	n/a
39	chr10:783591-783641	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:783591-783641	AG10803	skin:	n/a
41	chr10:783312-783362	GM19239	blood:	n/a
42	chr10:778709-778759	PrEC	prostate:	n/a
43	chr10:782282-782332	HNPCEpiC	eye:	n/a
44	chr10:778709-778759	GM06990	blood:	n/a
45	chr10:783312-783362	HCF	heart:	n/a
46	chr10:783312-783362	SK-N-MC	brain:	n/a
47	chr10:782282-782332	GM12892	blood:	n/a
48	chr10:783312-783362	IMR90	lung:	fetal
49	chr10:783312-783362	RPTEC	kidney:	n/a
50	chr10:783591-783641	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:778218..778758-chr10:824666..825446,2	MCF-7	breast:
2	chr10:757872..760729-chr10:776939..779568,2	MCF-7	breast:
3	chr10:778218..778962-chr10:824579..825446,5	MCF-7	breast:
4	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: 54 )

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	rs34191658	chr10:778648-778649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191618533	chr10:778709-778710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539367489	chr10:778720-778721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138864622	chr10:778765-778766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17293517	chr10:778770-778771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544455889	chr10:778771-778772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555122335	chr10:778850-778851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574949032	chr10:778852-778853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540637621	chr10:778857-778858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115933204	chr10:778860-778861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577164202	chr10:778884-778885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183726608	chr10:778903-778904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539012794	chr10:778924-778925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117526840	chr10:778948-778949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55832864	chr10:778949-778950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149403611	chr10:779041-779042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559025264	chr10:779081-779082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144808839	chr10:779083-779084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529695718	chr10:779096-779097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546287880	chr10:779102-779103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377250478	chr10:779169-779170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566504597	chr10:779210-779211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538239280	chr10:779220-779221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552861565	chr10:779227-779228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577084068	chr10:779229-779230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188215652	chr10:779240-779241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572415383	chr10:779246-779247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555157138	chr10:779254-779255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180711742	chr10:779280-779281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187392227	chr10:779281-779282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569522439	chr10:779283-779284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2486591	chr10:779284-779285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576195017	chr10:779301-779302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190364797	chr10:779307-779308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541990869	chr10:779317-779318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565204107	chr10:779327-779328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78132109	chr10:779329-779330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377655582	chr10:779343-779344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541535422	chr10:779367-779368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544006299	chr10:779383-779384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560795564	chr10:779388-779389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116921743	chr10:779411-779412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144541001	chr10:779415-779416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4881512	chr10:779435-779436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202076190	chr10:779440-779441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145931558	chr10:779443-779444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551852997	chr10:779445-779446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35262694	chr10:779449-779450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116664473	chr10:779469-779470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527316744	chr10:779492-779493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:775800-779400	Weak transcription	Pancreas	Pancrea
2	chr10:776000-779200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:778600-779400	Enhancers	Placenta	Placenta
4	chr10:779200-779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:779400-779600	Enhancers	Esophagus	oesophagus
6	chr10:779400-779600	Enhancers	Gastric	stomach
7	chr10:779400-779600	Enhancers	Pancreas	Pancrea
8	chr10:779400-785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:779600-779800	Weak transcription	Pancreas	Pancrea
10	chr10:779600-785200	Weak transcription	Gastric	stomach
11	chr10:784000-790600	Weak transcription	Spleen	Spleen
12	chr10:785200-785600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:785200-785600	ZNF genes & repeats	Gastric	stomach
14	chr10:785200-785800	ZNF genes & repeats	Fetal Kidney	kidney

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