Variant report

Variant	esv3363548
Chromosome Location	chr10:712152-715850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:715741-715787	K562	blood:	n/a	n/a
2	KAP1	chr10:713008-714600	U2OS	brain:	n/a	n/a
3	MAX	chr10:713868-714036	HepG2	liver:	n/a	n/a
4	MXI1	chr10:711101-712926	IMR90	lung:	n/a	chr10:711561-711570
5	POLR2A	chr10:713541-714399	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:713447-713459	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr10:713849-713905	Gliobla	brain:	n/a	n/a
8	POLR2A	chr10:713657-714026	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:713905-714580	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:715831-716473	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr10:711081-712185	IMR90	lung:	n/a	n/a
12	POLR2A	chr10:715102-715151	HUVEC	blood vessel:	n/a	n/a
13	RFX5	chr10:714986-715025	HepG2	liver:	n/a	n/a
14	SUZ12	chr10:713484-714088	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAL1	chr10:713761-713775	K562	blood:	n/a	n/a
16	USF2	chr10:713932-713934	GM12878	blood:	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	chr10:712394-712444	HNPCEpiC	eye:	n/a
2	chr10:712394-712444	HPAEpiC	pulmonary alveolar:	n/a
3	chr10:712165-712215	AG04450	lung:	fetal
4	chr10:712394-712444	Caco-2	colon:	n/a
5	chr10:712442-712492	ECC-1	luminal epithelium:	n/a
6	chr10:712207-712257	H1-hESC	embryonic stem cell:	embryo
7	chr10:712394-712444	U87	brain:	n/a
8	chr10:712207-712257	HL-60	blood:	n/a
9	chr10:712394-712444	LNCaP	prostate:	n/a
10	chr10:712165-712215	SK-N-MC	brain:	n/a
11	chr10:712394-712444	GM19239	blood:	n/a
12	chr10:712165-712215	Caco-2	colon:	n/a
13	chr10:712592-712642	BE2_C	brain:	n/a
14	chr10:712165-712215	HCPEpiC	choroid plexus:	n/a
15	chr10:712442-712492	K562	blood:	n/a
16	chr10:712165-712215	CMK	blood:	n/a
17	chr10:712165-712215	K562	blood:	n/a
18	chr10:712592-712642	A549	lung:	n/a
19	chr10:712592-712642	RPTEC	kidney:	n/a
20	chr10:712207-712257	Jurkat	blood:	n/a
21	chr10:712394-712444	HL-60	blood:	n/a
22	chr10:712592-712642	IMR90	lung:	fetal
23	chr10:712394-712444	AG04450	lung:	fetal
24	chr10:712165-712215	LNCaP	prostate:	n/a
25	chr10:712442-712492	NHDF-neo	bronchial:	n/a
26	chr10:712165-712215	HUVEC	blood vessel:	n/a
27	chr10:712207-712257	LNCaP	prostate:	n/a
28	chr10:712442-712492	T-47D	breast:	n/a
29	chr10:712442-712492	NHBE	bronchial:	n/a
30	chr10:712207-712257	BE2_C	brain:	n/a
31	chr10:712442-712492	SAEC	small airway:	n/a
32	chr10:712592-712642	AG09309	skin:	n/a
33	chr10:712592-712642	GM12892	blood:	n/a
34	chr10:712394-712444	NHDF-neo	bronchial:	n/a
35	chr10:712442-712492	HCT-116	colon:	n/a
36	chr10:712442-712492	RPTEC	kidney:	n/a
37	chr10:712592-712642	AG10803	skin:	n/a
38	chr10:712394-712444	MCF-7	breast:	n/a
39	chr10:712592-712642	HIPEpiC	eye:	n/a
40	chr10:712394-712444	HEK293	kidney:	embryo
41	chr10:712442-712492	ovcar-3	ovarian:	n/a
42	chr10:712394-712444	SK-N-MC	brain:	n/a
43	chr10:712207-712257	GM12878	blood:	n/a
44	chr10:712442-712492	SK-N-SH_RA	brain:	n/a
45	chr10:712592-712642	AoSMC	blood vessel:	n/a
46	chr10:712592-712642	HepG2	liver:	n/a
47	chr10:712207-712257	Hepatocyte	liver:	n/a
48	chr10:712165-712215	HPAEpiC	pulmonary alveolar:	n/a
49	chr10:712592-712642	ECC-1	luminal epithelium:	n/a
50	chr10:712207-712257	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:583403..585208-chr10:714450..715956,2	K562	blood:
2	chr10:603209..605062-chr10:710188..713086,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-1	chr10:712158-712562	ENSG00000242357.1
2	lnc-C10orf108-5	chr10:714400-715521	ENSG00000272992.1

No data

Variant related genes	Relation type
ENSG00000272992	TF binding region
ENSG00000272992	CpG island

Extended variants
information (count: 179 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545124855	chr10:712176-712177	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs565398162	chr10:712200-712201	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs530890313	chr10:712267-712268	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs115936268	chr10:712343-712344	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs185945192	chr10:712356-712357	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs529217130	chr10:712394-712395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs548346041	chr10:712395-712396	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs537689571	chr10:712456-712457	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs565698586	chr10:712476-712477	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs534822206	chr10:712510-712511	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs569991701	chr10:712531-712532	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs557404597	chr10:712545-712546	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs571027004	chr10:712549-712550	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs374634336	chr10:712560-712561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs56395506	chr10:712563-712564	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556567048	chr10:712575-712576	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574272124	chr10:712587-712588	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17136372	chr10:712617-712618	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553631248	chr10:712653-712654	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532609126	chr10:712665-712666	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs374647769	chr10:712667-712668	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573327179	chr10:712697-712698	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545631825	chr10:712745-712746	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565361027	chr10:712747-712748	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192471239	chr10:712787-712788	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544611907	chr10:712815-712816	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182046200	chr10:712816-712817	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs561169324	chr10:712928-712929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530118129	chr10:712933-712934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548961668	chr10:713059-713060	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565988640	chr10:713068-713069	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528240135	chr10:713069-713070	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187096753	chr10:713103-713104	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551197218	chr10:713193-713194	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs570988358	chr10:713203-713204	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376035459	chr10:713216-713217	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112762341	chr10:713226-713227	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182920203	chr10:713241-713242	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550270309	chr10:713252-713253	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs60529581	chr10:713255-713256	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568217309	chr10:713268-713269	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574162166	chr10:713301-713302	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553355243	chr10:713325-713326	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573514106	chr10:713332-713333	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539965014	chr10:713336-713337	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187199774	chr10:713354-713355	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559239336	chr10:713368-713369	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs145871118	chr10:713381-713382	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs61833029	chr10:713392-713393	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561438961	chr10:713404-713405	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	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	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:708000-713200	Weak transcription	Esophagus	oesophagus
3	chr10:708000-713200	Weak transcription	Psoas Muscle	Psoas
4	chr10:708400-713000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:708400-716000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:708400-716000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:708400-716000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:709000-713200	Weak transcription	Gastric	stomach
9	chr10:709200-713400	Weak transcription	Fetal Heart	heart
10	chr10:709200-716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:709600-713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:709800-712200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr10:709800-716000	Weak transcription	Spleen	Spleen
14	chr10:710200-713000	Weak transcription	Fetal Brain Female	brain
15	chr10:710200-713000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:710200-713200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:710200-723800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:710400-712200	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:710400-712400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:710400-713000	Weak transcription	Left Ventricle	heart
21	chr10:710600-713600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:711000-718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:711200-712200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:711200-712200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:711200-712200	Active TSS	NHLF	lung
26	chr10:711200-713200	Weak transcription	Brain Substantia Nigra	brain
27	chr10:711400-712200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:711400-712200	Active TSS	Ovary	ovary
29	chr10:711400-712200	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr10:711400-712400	Enhancers	Fetal Brain Male	brain
31	chr10:711400-712800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:711600-712200	Active TSS	Adipose Nuclei	Adipose
33	chr10:711600-712200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr10:711600-712400	Enhancers	Brain Hippocampus Middle	brain
35	chr10:711600-716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:711800-712200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:711800-712200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:711800-712200	Enhancers	Brain Germinal Matrix	brain
39	chr10:711800-712200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr10:711800-712200	Active TSS	Fetal Thymus	thymus
41	chr10:711800-712400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr10:711800-712400	Enhancers	Lung	lung
43	chr10:711800-713200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:711800-713200	Weak transcription	Brain Angular Gyrus	brain
45	chr10:712000-712200	Enhancers	Brain Anterior Caudate	brain
46	chr10:712000-712200	Active TSS	Colon Smooth Muscle	Colon
47	chr10:712000-712200	Flanking Active TSS	Fetal Lung	lung
48	chr10:712000-712400	Weak transcription	Fetal Stomach	stomach
49	chr10:712000-713000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:712000-713200	Weak transcription	Brain Cingulate Gyrus	brain

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