Variant report

Variant	nsv831773
Chromosome Location	chr10:5069805-5109716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:62)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:5081022-5081232	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:5077017-5077109	K562	blood:	n/a	n/a
3	ARID3A	chr10:5089966-5091092	HepG2	liver:	n/a	chr10:5090324-5090340
4	ARID3A	chr10:5083803-5084201	HepG2	liver:	n/a	n/a
5	BACH1	chr10:5075630-5075846	K562	blood:	n/a	chr10:5075716-5075730
6	CBX3	chr10:5073236-5073534	K562	blood:	n/a	n/a
7	CBX3	chr10:5076830-5077189	HCT-116	colon:	n/a	n/a
8	CBX3	chr10:5076841-5077162	K562	blood:	n/a	n/a
9	CBX3	chr10:5073146-5073492	K562	blood:	n/a	n/a
10	CBX3	chr10:5076787-5077211	K562	blood:	n/a	n/a
11	CEBPB	chr10:5075471-5076090	A549	lung:	n/a	chr10:5075770-5075783
12	CEBPB	chr10:5089952-5090247	A549	lung:	n/a	n/a
13	CEBPB	chr10:5085927-5086082	K562	blood:	n/a	chr10:5086022-5086033
14	CEBPB	chr10:5080949-5081304	HepG2	liver:	n/a	chr10:5081126-5081137
15	CEBPB	chr10:5090858-5090976	HepG2	liver:	n/a	n/a
16	CEBPB	chr10:5080873-5081339	MCF-7	breast:	n/a	chr10:5081126-5081137
17	CEBPB	chr10:5080979-5081298	A549	lung:	n/a	chr10:5081126-5081137
18	CEBPB	chr10:5080879-5081402	A549	lung:	n/a	chr10:5081126-5081137
19	CEBPB	chr10:5075759-5075850	K562	blood:	n/a	chr10:5075770-5075783
20	CEBPB	chr10:5075395-5076040	Hela-S3	cervix:	n/a	chr10:5075770-5075783
21	CEBPB	chr10:5080963-5081285	Hela-S3	cervix:	n/a	chr10:5081126-5081137
22	CEBPB	chr10:5083901-5084107	HepG2	liver:	n/a	n/a
23	CEBPB	chr10:5085737-5086568	ECC-1	luminal epithelium:	n/a	chr10:5086022-5086033
24	CEBPB	chr10:5080983-5081286	IMR90	lung:	n/a	chr10:5081126-5081137
25	CEBPB	chr10:5075570-5075963	A549	lung:	n/a	chr10:5075770-5075783
26	CEBPB	chr10:5075581-5075977	IMR90	lung:	n/a	chr10:5075770-5075783
27	CEBPB	chr10:5081000-5081296	K562	blood:	n/a	chr10:5081126-5081137
28	CEBPB	chr10:5075613-5075903	A549	lung:	n/a	chr10:5075770-5075783
29	CEBPB	chr10:5089961-5090237	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr10:5085998-5086132	HepG2	liver:	n/a	chr10:5086022-5086033
31	CEBPB	chr10:5085788-5086430	ECC-1	luminal epithelium:	n/a	chr10:5086022-5086033
32	CEBPB	chr10:5089937-5090421	HepG2	liver:	n/a	n/a
33	CEBPB	chr10:5073633-5074095	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr10:5082880-5083030	GM12871	blood:	n/a	n/a
35	CTCF	chr10:5097544-5097641	Lung_OC	lung:	n/a	n/a
36	CTCF	chr10:5078198-5078277	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr10:5082358-5082842	MCF-7	breast:	n/a	n/a
38	CTCF	chr10:5082469-5082744	K562	blood:	n/a	n/a
39	CTCF	chr10:5094981-5095022	GM10266	blood:	n/a	n/a
40	CTCF	chr10:5073967-5074065	GM13976	blood:	n/a	n/a
41	CTCF	chr10:5078187-5078328	MCF-7	breast:	n/a	n/a
42	CTCF	chr10:5082522-5082666	HepG2	liver:	n/a	n/a
43	CTCF	chr10:5078240-5078390	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr10:5082577-5082630	HepG2	liver:	n/a	n/a
45	CTCF	chr10:5082496-5082713	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:5082382-5082897	MCF-7	breast:	n/a	n/a
47	CTCF	chr10:5082580-5082730	MCF-7	breast:	n/a	n/a
48	CTCF	chr10:5078120-5078270	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:5106365-5106409	GM20000	blood:	n/a	n/a
50	CTCF	chr10:5077933-5077986	Kidney_OC	kidney:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5074993-5075043	HCT-116	colon:	n/a
2	chr10:5074993-5075043	HCT-116	colon:	n/a
3	chr10:5074993-5075043	HIPEpiC	eye:	n/a
4	chr10:5074993-5075043	SAEC	small airway:	n/a
5	chr10:5074993-5075043	H1-hESC	embryonic stem cell:	embryo
6	chr10:5074993-5075043	BJ	skin:	n/a
7	chr10:5074993-5075043	GM19239	blood:	n/a
8	chr10:5074993-5075043	AG10803	skin:	n/a
9	chr10:5074993-5075043	HNPCEpiC	eye:	n/a
10	chr10:5074993-5075043	HCM	heart:	n/a
11	chr10:5074993-5075043	ECC-1	luminal epithelium:	n/a
12	chr10:5074993-5075043	GM12892	blood:	n/a
13	chr10:5074993-5075043	HCF	heart:	n/a
14	chr10:5074993-5075043	HRE	kidney:	n/a
15	chr10:5074993-5075043	MCF10A-Er-Src	breast:	n/a
16	chr10:5074993-5075043	GM12878	blood:	n/a
17	chr10:5074993-5075043	AG09309	skin:	n/a
18	chr10:5074993-5075043	Caco-2	colon:	n/a
19	chr10:5074993-5075043	GM06990	blood:	n/a
20	chr10:5074993-5075043	AoSMC	blood vessel:	n/a
21	chr10:5074993-5075043	Hepatocyte	liver:	n/a
22	chr10:5074993-5075043	SK-N-SH_RA	brain:	n/a
23	chr10:5074993-5075043	HPAEpiC	pulmonary alveolar:	n/a
24	chr10:5074993-5075043	NHBE	bronchial:	n/a
25	chr10:5074993-5075043	NT2-D1	testis:	n/a
26	chr10:5074993-5075043	U87	brain:	n/a
27	chr10:5074993-5075043	Jurkat	blood:	n/a
28	chr10:5074993-5075043	NB4	blood:	n/a
29	chr10:5074993-5075043	AG04450	lung:	fetal
30	chr10:5074993-5075043	IMR90	lung:	fetal
31	chr10:5074993-5075043	PFSK-1	brain:	n/a
32	chr10:5074993-5075043	HRPEpiC	eye:	n/a
33	chr10:5074993-5075043	SKMC	muscle:	n/a
34	chr10:5074993-5075043	Hela-S3	cervix:	n/a
35	chr10:5074993-5075043	HRCEpiC	kidney:	n/a
36	chr10:5074993-5075043	PANC-1	pancreas:	n/a
37	chr10:5074993-5075043	ProgFib	skin:	n/a
38	chr10:5074993-5075043	LNCaP	prostate:	n/a
39	chr10:5074993-5075043	ovcar-3	ovarian:	n/a
40	chr10:5074993-5075043	NHDF-neo	bronchial:	n/a
41	chr10:5074993-5075043	HepG2	liver:	n/a
42	chr10:5074993-5075043	PrEC	prostate:	n/a
43	chr10:5074993-5075043	T-47D	breast:	n/a
44	chr10:5074993-5075043	K562	blood:	n/a
45	chr10:5074993-5075043	HEEpiC	esophagus:	n/a
46	chr10:5074993-5075043	NH-A	brain:	n/a
47	chr10:5074993-5075043	MCF-7	breast:	n/a
48	chr10:5074993-5075043	AG09319	gingival:	n/a
49	chr10:5074993-5075043	RPTEC	kidney:	n/a
50	chr10:5074993-5075043	HAEpiC	amniotic membrane:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5056836..5057474-chr10:5082161..5082671,2	MCF-7	breast:
2	chr10:5086402..5088845-chr10:5091899..5093648,2	K562	blood:
3	chr10:5023921..5025963-chr10:5094008..5095926,2	MCF-7	breast:
4	chr10:5086986..5088845-chr10:5092148..5094003,2	K562	blood:
5	chr10:5078550..5080875-chr10:5082513..5084099,2	K562	blood:
6	chr10:5086986..5088845-chr10:5092148..5094003,2	K562	blood:
7	chr10:5074304..5076231-chr10:5473842..5475799,2	K562	blood:
8	chr10:5086402..5088845-chr10:5091899..5093648,2	K562	blood:
9	chr10:5077326..5079910-chr10:5080689..5083376,2	K562	blood:
10	chr10:5082340..5083456-chr10:5325202..5326034,4	MCF-7	breast:
11	chr10:5073664..5075237-chr10:5075576..5077420,2	MCF-7	breast:
12	chr10:5078550..5080875-chr10:5082513..5084099,2	K562	blood:
13	chr10:5073664..5075237-chr10:5075576..5077420,2	MCF-7	breast:
14	chr10:5082218..5083019-chr10:5136925..5137462,2	MCF-7	breast:
15	chr10:5067000..5068647-chr10:5074072..5076812,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1C3	TF binding region
ENSG00000251740	TF binding region
ENSG00000237831	TF binding region
AKR1C3	CpG island
ENSG00000251740	CpG island
ENSG00000237831	CpG island
ENSG00000196139	chromatin interactions
ENSG00000151632	chromatin interactions

Extended variants
information (count: 2026 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2026 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533168097	chr10:5069815-5069816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551265585	chr10:5069835-5069836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566988726	chr10:5069921-5069922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373987415	chr10:5069926-5069927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73605030	chr10:5069942-5069943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549403293	chr10:5070021-5070022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147382100	chr10:5070030-5070031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61856133	chr10:5070039-5070040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201412706	chr10:5070060-5070061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146988690	chr10:5070069-5070070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147890820	chr10:5070070-5070071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539252600	chr10:5070071-5070072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141656249	chr10:5070076-5070077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370420199	chr10:5070077-5070078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72772107	chr10:5070099-5070100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2895060	chr10:5070119-5070120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112592165	chr10:5070140-5070141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141858709	chr10:5070149-5070150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573689115	chr10:5070152-5070153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2398194	chr10:5070170-5070171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530937357	chr10:5070240-5070241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77492365	chr10:5070264-5070265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533062134	chr10:5070314-5070315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113387879	chr10:5070464-5070465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111834956	chr10:5070476-5070477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111557859	chr10:5070480-5070481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545227914	chr10:5070500-5070501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560086003	chr10:5070507-5070508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527433169	chr10:5070553-5070554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184533851	chr10:5070566-5070567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567386161	chr10:5070639-5070640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112098367	chr10:5070675-5070676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541914910	chr10:5070698-5070699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113471377	chr10:5070727-5070728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571945750	chr10:5070731-5070732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4578287	chr10:5070736-5070737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554393233	chr10:5070737-5070738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566147340	chr10:5070762-5070763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200467950	chr10:5070779-5070780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199799881	chr10:5070811-5070812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373748411	chr10:5070827-5070828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536815128	chr10:5070884-5070885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555518555	chr10:5070891-5070892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568632312	chr10:5070896-5070897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4578288	chr10:5070924-5070925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554861598	chr10:5070935-5070936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74582680	chr10:5070983-5070984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371283624	chr10:5071006-5071007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574733270	chr10:5071008-5071009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375893053	chr10:5071040-5071041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
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
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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5059000-5071000	Weak transcription	Aorta	Aorta
2	chr10:5068000-5075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:5068000-5076800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:5068600-5073600	Weak transcription	Stomach Mucosa	stomach
5	chr10:5072200-5073800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:5073200-5073800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:5073400-5076000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:5073600-5074000	Enhancers	Stomach Mucosa	stomach
9	chr10:5073600-5074400	Enhancers	Hela-S3	cervix
10	chr10:5073800-5074000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:5073800-5074000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:5073800-5074000	Enhancers	HUVEC	blood vessel
13	chr10:5073800-5074000	Enhancers	Osteobl	bone
14	chr10:5073800-5074200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:5074000-5075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:5074000-5075000	Weak transcription	Osteobl	bone
17	chr10:5074000-5075200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:5074000-5075400	Weak transcription	HUVEC	blood vessel
19	chr10:5074000-5078800	Weak transcription	Stomach Mucosa	stomach
20	chr10:5074400-5074800	Weak transcription	Hela-S3	cervix
21	chr10:5074800-5076600	Enhancers	Hela-S3	cervix
22	chr10:5075000-5075200	Enhancers	Osteobl	bone
23	chr10:5075000-5076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:5075000-5076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:5075000-5076200	Enhancers	NHDF-Ad	bronchial
26	chr10:5075000-5076400	Enhancers	HMEC	breast
27	chr10:5075000-5076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:5075000-5076800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr10:5075200-5075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:5075200-5075600	ZNF genes & repeats	K562	blood
31	chr10:5075200-5075600	Enhancers	NHLF	lung
32	chr10:5075200-5075600	Flanking Active TSS	Osteobl	bone
33	chr10:5075200-5076200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:5075200-5076200	Enhancers	NHEK	skin
35	chr10:5075200-5076600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:5075200-5076600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:5075200-5076600	Enhancers	NH-A	brain
38	chr10:5075200-5077000	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr10:5075400-5075800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:5075400-5076200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:5075400-5076200	Enhancers	HSMM	muscle
42	chr10:5075400-5076200	Enhancers	HUVEC	blood vessel
43	chr10:5075600-5076800	Enhancers	Osteobl	bone
44	chr10:5075800-5076200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:5076000-5076200	ZNF genes & repeats	A549	lung
46	chr10:5076000-5076200	Enhancers	NHLF	lung
47	chr10:5076000-5076800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:5076200-5077400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:5076200-5080800	Weak transcription	NHDF-Ad	bronchial
50	chr10:5076400-5076600	ZNF genes & repeats	A549	lung

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