Variant report

Variant	nsv549887
Chromosome Location	chr10:5263628-5303742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:5285389-5285941	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:5275365-5275665	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:5276009-5276456	HepG2	liver:	n/a	n/a
4	ATF1	chr10:5300425-5300441	K562	blood:	n/a	n/a
5	ATF1	chr10:5276143-5276340	K562	blood:	n/a	n/a
6	BHLHE40	chr10:5276097-5276402	HepG2	liver:	n/a	n/a
7	CEBPB	chr10:5275567-5275767	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:5276021-5276478	HepG2	liver:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
9	CEBPB	chr10:5276044-5276405	K562	blood:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
10	CEBPB	chr10:5276037-5276457	A549	lung:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
11	CEBPB	chr10:5276098-5276385	Hela-S3	cervix:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
12	CEBPB	chr10:5283675-5283701	A549	lung:	n/a	n/a
13	CEBPB	chr10:5275982-5276498	A549	lung:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
14	CEBPB	chr10:5294448-5294773	A549	lung:	n/a	n/a
15	CEBPB	chr10:5283692-5283767	HepG2	liver:	n/a	chr10:5283712-5283723
16	CEBPB	chr10:5275837-5276578	A549	lung:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
17	CEBPB	chr10:5275967-5276495	HepG2	liver:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
18	CEBPB	chr10:5285419-5285640	HepG2	liver:	n/a	n/a
19	CEBPB	chr10:5276106-5276400	IMR90	lung:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
20	CEBPB	chr10:5285358-5285791	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:5276086-5276358	HepG2	liver:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
22	CEBPB	chr10:5276004-5276566	MCF-7	breast:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
23	CEBPB	chr10:5276115-5276258	K562	blood:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
24	CEBPB	chr10:5275974-5276527	MCF-7	breast:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
25	CEBPB	chr10:5283605-5283805	K562	blood:	n/a	chr10:5283712-5283723
26	CEBPB	chr10:5294450-5294655	HepG2	liver:	n/a	n/a
27	CEBPB	chr10:5285396-5285741	HepG2	liver:	n/a	n/a
28	CEBPB	chr10:5276032-5276421	K562	blood:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
29	CEBPB	chr10:5276049-5276449	HepG2	liver:	n/a	chr10:5276210-5276221 chr10:5276211-5276222
30	CEBPD	chr10:5276049-5276296	HepG2	liver:	n/a	chr10:5276210-5276221
31	CEBPD	chr10:5276048-5276356	HepG2	liver:	n/a	chr10:5276210-5276221
32	CEBPD	chr10:5294655-5294915	HepG2	liver:	n/a	n/a
33	CEBPD	chr10:5285464-5285697	HepG2	liver:	n/a	n/a
34	CHD2	chr10:5285507-5285744	HepG2	liver:	n/a	n/a
35	CTCF	chr10:5294274-5294438	A549	lung:	n/a	n/a
36	CTCF	chr10:5294240-5294390	GM12875	blood:	n/a	n/a
37	CTCF	chr10:5294192-5294502	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr10:5296761-5296817	GM13976	blood:	n/a	n/a
39	CTCF	chr10:5297288-5297306	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr10:5294701-5294870	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:5294280-5294430	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr10:5294746-5294854	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:5303640-5303790	MCF-7	breast:	n/a	chr10:5303735-5303745 chr10:5303734-5303747 chr10:5303732-5303750
44	CTCF	chr10:5303473-5303979	MCF-7	breast:	n/a	chr10:5303735-5303745 chr10:5303734-5303747 chr10:5303732-5303750
45	CTCF	chr10:5294275-5294441	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:5294280-5294430	HEK293	kidney:	n/a	n/a
47	CTCF	chr10:5294563-5294909	HepG2	liver:	n/a	n/a
48	CTCF	chr10:5294215-5294402	K562	blood:	n/a	n/a
49	CTCF	chr10:5294317-5294328	Fibrobl	skin:	n/a	n/a
50	CTCF	chr10:5303660-5303810	A549	lung:	n/a	chr10:5303735-5303745 chr10:5303734-5303747 chr10:5303732-5303750

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5302629-5302679	BJ	skin:	n/a
2	chr10:5302629-5302679	BJ	skin:	n/a
3	chr10:5302629-5302679	SK-N-SH_RA	brain:	n/a
4	chr10:5302629-5302679	PANC-1	pancreas:	n/a
5	chr10:5302629-5302679	AG09319	gingival:	n/a
6	chr10:5302629-5302679	GM12878	blood:	n/a
7	chr10:5302629-5302679	Jurkat	blood:	n/a
8	chr10:5302629-5302679	ProgFib	skin:	n/a
9	chr10:5302629-5302679	CMK	blood:	n/a
10	chr10:5302629-5302679	HL-60	blood:	n/a
11	chr10:5302629-5302679	HPAEpiC	pulmonary alveolar:	n/a
12	chr10:5302629-5302679	PFSK-1	brain:	n/a
13	chr10:5302629-5302679	NH-A	brain:	n/a
14	chr10:5302629-5302679	IMR90	lung:	fetal
15	chr10:5302629-5302679	HepG2	liver:	n/a
16	chr10:5302629-5302679	GM12891	blood:	n/a
17	chr10:5302629-5302679	SK-N-MC	brain:	n/a
18	chr10:5302629-5302679	PrEC	prostate:	n/a
19	chr10:5302629-5302679	BE2_C	brain:	n/a
20	chr10:5302629-5302679	T-47D	breast:	n/a
21	chr10:5302629-5302679	NT2-D1	testis:	n/a
22	chr10:5302629-5302679	MCF10A-Er-Src	breast:	n/a
23	chr10:5302629-5302679	HIPEpiC	eye:	n/a
24	chr10:5302629-5302679	HUVEC	blood vessel:	n/a
25	chr10:5302629-5302679	SK-N-SH	brain:	n/a
26	chr10:5302629-5302679	NHDF-neo	bronchial:	n/a
27	chr10:5302629-5302679	HNPCEpiC	eye:	n/a
28	chr10:5302629-5302679	A549	lung:	n/a
29	chr10:5302629-5302679	AG10803	skin:	n/a
30	chr10:5302629-5302679	RPTEC	kidney:	n/a
31	chr10:5302629-5302679	HRCEpiC	kidney:	n/a
32	chr10:5302629-5302679	U87	brain:	n/a
33	chr10:5302629-5302679	HEK293	kidney:	embryo
34	chr10:5302629-5302679	GM06990	blood:	n/a
35	chr10:5302629-5302679	HEEpiC	esophagus:	n/a
36	chr10:5302629-5302679	Hela-S3	cervix:	n/a
37	chr10:5302629-5302679	ovcar-3	ovarian:	n/a
38	chr10:5302629-5302679	K562	blood:	n/a
39	chr10:5302629-5302679	MCF-7	breast:	n/a
40	chr10:5302629-5302679	ECC-1	luminal epithelium:	n/a
41	chr10:5302629-5302679	AG04450	lung:	fetal
42	chr10:5302629-5302679	Caco-2	colon:	n/a
43	chr10:5302629-5302679	HCT-116	colon:	n/a
44	chr10:5302629-5302679	NB4	blood:	n/a
45	chr10:5302629-5302679	NHBE	bronchial:	n/a
46	chr10:5302629-5302679	SAEC	small airway:	n/a
47	chr10:5302629-5302679	HAEpiC	amniotic membrane:	n/a
48	chr10:5302629-5302679	HCF	heart:	n/a
49	chr10:5302629-5302679	LNCaP	prostate:	n/a
50	chr10:5302629-5302679	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:
2	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:
3	chr10:5300898..5303251-chr10:5486479..5488838,2	K562	blood:
4	chr10:5285721..5288092-chr10:5296102..5298963,2	K562	blood:
5	chr10:5285721..5288092-chr10:5296102..5298963,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C4-1	chr10:5276321-5276555	XLOC_008363
2	lnc-AKR1C4-3	chr10:5294924-5295165	NONHSAT011143
3	lnc-AKR1CL1-3	chr10:5303161-5303199	NONHSAT011146
4	lnc-AKR1CL1-3	chr10:5297996-5298648	NONHSAT011146
5	lnc-AKR1C4-3	chr10:5266321-5266555	NONHSAT011143
6	lnc-AKR1C4-1	chr10:5276321-5276556	ENSG00000231039.2

Variant related genes	Relation type
ENSG00000231039	TF binding region
ENSG00000231039	CpG island
ENSG00000173848	chromatin interactions

Extended variants
information (count: 1988 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9423382	chr10:5263628-5263629	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141672638	chr10:5263668-5263669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536002478	chr10:5263673-5263674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557278200	chr10:5263693-5263694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17134617	chr10:5263702-5263703	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184229792	chr10:5263703-5263704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146171829	chr10:5263717-5263718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187098280	chr10:5263765-5263766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111844293	chr10:5263791-5263792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369538872	chr10:5263827-5263828	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182262978	chr10:5263835-5263836	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145211548	chr10:5263856-5263857	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368116662	chr10:5263857-5263858	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562178054	chr10:5263888-5263889	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186569032	chr10:5263902-5263903	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548362229	chr10:5263914-5263915	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1931681	chr10:5263915-5263916	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552525043	chr10:5263921-5263922	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570779795	chr10:5263927-5263928	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4881414	chr10:5263941-5263942	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568102884	chr10:5263945-5263946	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555406829	chr10:5263949-5263950	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74856670	chr10:5263972-5263973	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557125680	chr10:5263980-5263981	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575470103	chr10:5263988-5263989	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139114575	chr10:5263996-5263997	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558003128	chr10:5263997-5263998	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573216756	chr10:5264042-5264043	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573756004	chr10:5264076-5264077	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79739433	chr10:5264086-5264087	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544045031	chr10:5264106-5264107	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190125906	chr10:5264117-5264118	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142615136	chr10:5264127-5264128	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544412221	chr10:5264128-5264129	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563450463	chr10:5264132-5264133	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530694329	chr10:5264134-5264135	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182814337	chr10:5264153-5264154	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376607404	chr10:5264160-5264161	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528376850	chr10:5264173-5264174	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35397345	chr10:5264203-5264204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7083175	chr10:5264204-5264205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568008428	chr10:5264214-5264215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188825168	chr10:5264234-5264235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112409291	chr10:5264235-5264236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568634584	chr10:5264267-5264268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545521583	chr10:5264288-5264289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539611405	chr10:5264293-5264294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192898417	chr10:5264320-5264321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144953765	chr10:5264321-5264322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185800620	chr10:5264322-5264323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5263000-5264200	Strong transcription	A549	lung
2	chr10:5263200-5263800	Weak transcription	Liver	Liver
3	chr10:5264200-5275600	Weak transcription	A549	lung
4	chr10:5271000-5271200	Enhancers	Gastric	stomach
5	chr10:5271000-5271400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:5271200-5276600	Weak transcription	Gastric	stomach
7	chr10:5275000-5277800	Enhancers	HepG2	liver
8	chr10:5275400-5276000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:5275400-5276400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:5275400-5277800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:5275600-5276200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr10:5275600-5276400	Genic enhancers	A549	lung
13	chr10:5275600-5276800	Enhancers	Liver	Liver
14	chr10:5275600-5277000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:5275600-5277600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:5275600-5278000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:5275800-5276000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:5275800-5276000	Enhancers	Primary B cells from cord blood	blood
19	chr10:5275800-5276600	Enhancers	HMEC	breast
20	chr10:5275800-5276600	Enhancers	NHEK	skin
21	chr10:5275800-5276800	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:5275800-5277000	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:5276000-5276400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:5276000-5276600	Active TSS	Primary B cells from cord blood	blood
25	chr10:5276000-5276800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:5276000-5276800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:5276000-5276800	Enhancers	Fetal Intestine Large	intestine
28	chr10:5276000-5277000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr10:5276000-5277000	Enhancers	Stomach Mucosa	stomach
30	chr10:5276200-5277000	Enhancers	Adipose Nuclei	Adipose
31	chr10:5276200-5277000	Enhancers	Fetal Lung	lung
32	chr10:5276200-5277000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr10:5276400-5276800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:5276400-5276800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr10:5276400-5277000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:5276400-5277200	Enhancers	Placenta	Placenta
37	chr10:5276400-5283600	Weak transcription	A549	lung
38	chr10:5276600-5276800	Enhancers	Gastric	stomach
39	chr10:5276600-5277000	Enhancers	Esophagus	oesophagus
40	chr10:5276600-5277000	Enhancers	Lung	lung
41	chr10:5276600-5277400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:5276800-5277200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr10:5276800-5280800	Weak transcription	Gastric	stomach
44	chr10:5277000-5277600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr10:5277000-5277600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr10:5278000-5280800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:5280800-5281000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:5281000-5281400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:5281400-5282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:5281600-5282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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