Variant report

Variant	nsv971844
Chromosome Location	chr10:5103769-5124214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:446)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:5112815-5114610	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:5120586-5121209	K562	blood:	n/a	n/a
3	ARID3A	chr10:5122054-5122324	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:5123254-5123638	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:5113567-5114862	K562	blood:	n/a	n/a
6	ARID3A	chr10:5110678-5110878	K562	blood:	n/a	n/a
7	ATF1	chr10:5113912-5114323	K562	blood:	n/a	n/a
8	ATF3	chr10:5113911-5114354	K562	blood:	n/a	n/a
9	ATF3	chr10:5112971-5114564	A549	lung:	n/a	n/a
10	ATF3	chr10:5121895-5122433	A549	lung:	n/a	n/a
11	ATF3	chr10:5113430-5114380	A549	lung:	n/a	n/a
12	BACH1	chr10:5121040-5121383	K562	blood:	n/a	n/a
13	BACH1	chr10:5113866-5114859	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr10:5121194-5121208	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr10:5113506-5114634	K562	blood:	n/a	n/a
16	BCL3	chr10:5112966-5115139	A549	lung:	n/a	n/a
17	BCL3	chr10:5121775-5122553	A549	lung:	n/a	n/a
18	BCL3	chr10:5112642-5114508	A549	lung:	n/a	n/a
19	BCL3	chr10:5121933-5122486	A549	lung:	n/a	n/a
20	BHLHE40	chr10:5113493-5114242	HepG2	liver:	n/a	n/a
21	BHLHE40	chr10:5120759-5121300	K562	blood:	n/a	n/a
22	BHLHE40	chr10:5113561-5114284	K562	blood:	n/a	n/a
23	BRCA1	chr10:5113573-5114550	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr10:5112797-5113314	K562	blood:	n/a	n/a
25	CBX3	chr10:5120800-5121401	K562	blood:	n/a	n/a
26	CBX3	chr10:5113373-5114376	K562	blood:	n/a	n/a
27	CBX3	chr10:5111352-5111692	K562	blood:	n/a	n/a
28	CCNT2	chr10:5113598-5114309	K562	blood:	n/a	n/a
29	CEBPB	chr10:5113042-5114492	A549	lung:	n/a	chr10:5113205-5113213
30	CEBPB	chr10:5113242-5113459	HepG2	liver:	n/a	n/a
31	CEBPB	chr10:5112974-5114370	HepG2	liver:	n/a	chr10:5113205-5113213
32	CEBPB	chr10:5121904-5122523	A549	lung:	n/a	chr10:5122483-5122494 chr10:5122481-5122494
33	CEBPB	chr10:5113204-5114332	HepG2	liver:	n/a	chr10:5113205-5113213
34	CEBPB	chr10:5113194-5114409	K562	blood:	n/a	chr10:5113205-5113213
35	CEBPB	chr10:5122061-5122612	A549	lung:	n/a	chr10:5122483-5122494 chr10:5122481-5122494
36	CEBPB	chr10:5113209-5114149	HepG2	liver:	n/a	n/a
37	CEBPB	chr10:5113162-5114290	Hela-S3	cervix:	n/a	chr10:5113205-5113213
38	CEBPB	chr10:5113909-5114433	K562	blood:	n/a	n/a
39	CEBPB	chr10:5121854-5122635	A549	lung:	n/a	chr10:5122483-5122494 chr10:5122481-5122494
40	CEBPB	chr10:5113067-5114425	A549	lung:	n/a	chr10:5113205-5113213
41	CEBPB	chr10:5114072-5114327	HepG2	liver:	n/a	n/a
42	CEBPB	chr10:5112885-5114630	A549	lung:	n/a	chr10:5113205-5113213
43	CEBPD	chr10:5113872-5114403	K562	blood:	n/a	n/a
44	CHD2	chr10:5112981-5113060	HepG2	liver:	n/a	n/a
45	CHD2	chr10:5113343-5114242	HepG2	liver:	n/a	n/a
46	CHD2	chr10:5113718-5114233	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr10:5113959-5114246	K562	blood:	n/a	n/a
48	CHD2	chr10:5121053-5121172	K562	blood:	n/a	n/a
49	CREB1	chr10:5113570-5113795	A549	lung:	n/a	n/a
50	CREB1	chr10:5113557-5114265	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5113871-5113921	SK-N-SH	brain:	n/a
2	chr10:5113871-5113921	H1-hESC	embryonic stem cell:	embryo
3	chr10:5113871-5113921	Hepatocyte	liver:	n/a
4	chr10:5113871-5113921	MCF-7	breast:	n/a
5	chr10:5113871-5113921	A549	lung:	n/a
6	chr10:5113871-5113921	ovcar-3	ovarian:	n/a
7	chr10:5113871-5113921	GM06990	blood:	n/a
8	chr10:5113871-5113921	Jurkat	blood:	n/a
9	chr10:5113871-5113921	HMEC	breast:	n/a
10	chr10:5113871-5113921	Caco-2	colon:	n/a
11	chr10:5113871-5113921	CMK	blood:	n/a
12	chr10:5113871-5113921	GM19239	blood:	n/a
13	chr10:5113871-5113921	HIPEpiC	eye:	n/a
14	chr10:5113871-5113921	HL-60	blood:	n/a
15	chr10:5113871-5113921	PFSK-1	brain:	n/a
16	chr10:5113871-5113921	HCF	heart:	n/a
17	chr10:5113871-5113921	RPTEC	kidney:	n/a
18	chr10:5113871-5113921	HUVEC	blood vessel:	n/a
19	chr10:5113871-5113921	PANC-1	pancreas:	n/a
20	chr10:5113871-5113921	SK-N-SH_RA	brain:	n/a
21	chr10:5113871-5113921	SKMC	muscle:	n/a
22	chr10:5113871-5113921	HEEpiC	esophagus:	n/a
23	chr10:5113871-5113921	AG09319	gingival:	n/a
24	chr10:5113871-5113921	HRCEpiC	kidney:	n/a
25	chr10:5113871-5113921	HNPCEpiC	eye:	n/a
26	chr10:5113871-5113921	BE2_C	brain:	n/a
27	chr10:5113871-5113921	SAEC	small airway:	n/a
28	chr10:5113871-5113921	SK-N-MC	brain:	n/a
29	chr10:5113871-5113921	BJ	skin:	n/a
30	chr10:5113871-5113921	HepG2	liver:	n/a
31	chr10:5113871-5113921	LNCaP	prostate:	n/a
32	chr10:5113871-5113921	NHDF-neo	bronchial:	n/a
33	chr10:5113871-5113921	Hela-S3	cervix:	n/a
34	chr10:5113871-5113921	NT2-D1	testis:	n/a
35	chr10:5113871-5113921	IMR90	lung:	fetal
36	chr10:5113871-5113921	MCF10A-Er-Src	breast:	n/a
37	chr10:5113871-5113921	AG04450	lung:	fetal
38	chr10:5113871-5113921	HRE	kidney:	n/a
39	chr10:5113871-5113921	AoSMC	blood vessel:	n/a
40	chr10:5113871-5113921	AG09309	skin:	n/a
41	chr10:5113871-5113921	HAEpiC	amniotic membrane:	n/a
42	chr10:5113871-5113921	GM12878	blood:	n/a
43	chr10:5113871-5113921	HCT-116	colon:	n/a
44	chr10:5113871-5113921	AG04449	skin:	fetal
45	chr10:5113871-5113921	K562	blood:	n/a
46	chr10:5113871-5113921	NHBE	bronchial:	n/a
47	chr10:5113871-5113921	HPAEpiC	pulmonary alveolar:	n/a
48	chr10:5113871-5113921	PrEC	prostate:	n/a
49	chr10:5113871-5113921	ProgFib	skin:	n/a
50	chr10:5113871-5113921	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:5113654..5115809-chr10:5119275..5121684,2	MCF-7	breast:
2	chr10:5119351..5122041-chr10:5135538..5138283,2	MCF-7	breast:
3	chr10:4973639..4975791-chr10:5115008..5116577,2	K562	blood:
4	chr10:5012978..5016166-chr10:5111425..5114136,3	K562	blood:
5	chr10:5115990..5119268-chr10:5120160..5123753,3	K562	blood:
6	chr10:5110976..5115702-chr10:5115793..5122715,9	K562	blood:
7	chr10:5111978..5114211-chr10:5116578..5119006,2	MCF-7	breast:
8	chr10:5112556..5115410-chr10:5118342..5122673,4	K562	blood:
9	chr10:5115990..5119268-chr10:5120160..5123753,3	K562	blood:
10	chr10:5111978..5114211-chr10:5116578..5119006,2	MCF-7	breast:
11	chr10:5114807..5118123-chr10:5118660..5122292,3	MCF-7	breast:
12	chr10:5118736..5120512-chr10:5120642..5122422,2	MCF-7	breast:
13	chr10:5124077..5126424-chr10:5132088..5134931,2	K562	blood:
14	chr10:5112364..5115030-chr10:5137295..5139055,2	K562	blood:

No data

Variant related genes	Relation type
AKR1C3	TF binding region
AKR1C3	CpG island
ENSG00000196139	chromatin interactions
ENSG00000239142	chromatin interactions

Extended variants
information (count: 895 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536353264	chr10:5103780-5103781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548325294	chr10:5103788-5103789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182415509	chr10:5103812-5103813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186701748	chr10:5103864-5103865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556015913	chr10:5103913-5103914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577880438	chr10:5103935-5103936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538592558	chr10:5103953-5103954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568569826	chr10:5104037-5104038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572060159	chr10:5104051-5104052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11252914	chr10:5104098-5104099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558176234	chr10:5104154-5104155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560999816	chr10:5104194-5104195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1937838	chr10:5104203-5104204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72549123	chr10:5104206-5104207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182730800	chr10:5104231-5104232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368748900	chr10:5104264-5104265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547724700	chr10:5104285-5104286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10795241	chr10:5104290-5104291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188102367	chr10:5104371-5104372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1937837	chr10:5104383-5104384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs72549193	chr10:5104394-5104395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151261969	chr10:5104401-5104402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573877359	chr10:5104415-5104416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544438675	chr10:5104441-5104442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569840752	chr10:5104444-5104445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202110741	chr10:5104448-5104449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1937836	chr10:5104456-5104457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61708392	chr10:5104476-5104477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72549124	chr10:5104482-5104483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113219952	chr10:5104483-5104484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10904408	chr10:5104485-5104486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565523770	chr10:5104512-5104513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536282533	chr10:5104537-5104538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554678219	chr10:5104547-5104548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60945078	chr10:5104548-5104549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559200535	chr10:5104566-5104567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577416236	chr10:5104626-5104627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140503027	chr10:5104633-5104634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117525182	chr10:5104668-5104669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192914381	chr10:5104697-5104698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541840880	chr10:5104700-5104701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563405998	chr10:5104736-5104737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530919428	chr10:5104766-5104767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185284184	chr10:5104841-5104842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549517959	chr10:5104851-5104852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571350599	chr10:5104859-5104860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532377449	chr10:5104907-5104908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17395698	chr10:5104908-5104909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1937835	chr10:5104925-5104926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539804085	chr10:5104941-5104942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5095400-5120800	Weak transcription	Right Atrium	heart
2	chr10:5103600-5104200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:5104600-5104800	Enhancers	Adipose Nuclei	Adipose
4	chr10:5104800-5105600	Weak transcription	Adipose Nuclei	Adipose
5	chr10:5105400-5105800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:5105600-5105800	Enhancers	Adipose Nuclei	Adipose
7	chr10:5105800-5106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:5105800-5109600	Weak transcription	Adipose Nuclei	Adipose
9	chr10:5106000-5108400	Enhancers	NHDF-Ad	bronchial
10	chr10:5106600-5108000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:5106800-5107200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:5106800-5107600	Enhancers	HSMMtube	muscle
13	chr10:5106800-5108200	Enhancers	HSMM	muscle
14	chr10:5107000-5112800	Weak transcription	Liver	Liver
15	chr10:5107200-5109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:5108000-5113000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:5108200-5113200	Weak transcription	HSMM	muscle
18	chr10:5108400-5110000	Weak transcription	NHDF-Ad	bronchial
19	chr10:5109000-5109200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:5109200-5109400	ZNF genes & repeats	A549	lung
21	chr10:5109200-5111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:5109400-5110800	Weak transcription	A549	lung
23	chr10:5109400-5112600	Enhancers	HepG2	liver
24	chr10:5109400-5113200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:5109600-5111200	Enhancers	Adipose Nuclei	Adipose
26	chr10:5109800-5112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:5110000-5111000	Enhancers	NHDF-Ad	bronchial
28	chr10:5110400-5110800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:5110800-5111000	Enhancers	Gastric	stomach
30	chr10:5110800-5111000	Enhancers	Pancreas	Pancrea
31	chr10:5110800-5111000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr10:5110800-5112400	Enhancers	A549	lung
33	chr10:5110800-5112800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:5111000-5112200	Weak transcription	NHDF-Ad	bronchial
35	chr10:5111000-5112800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:5111200-5112000	Weak transcription	Adipose Nuclei	Adipose
37	chr10:5111200-5112400	Weak transcription	Psoas Muscle	Psoas
38	chr10:5111800-5116200	Enhancers	Fetal Intestine Large	intestine
39	chr10:5112000-5113200	Enhancers	Duodenum Mucosa	Duodenum
40	chr10:5112000-5113200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr10:5112000-5115200	Enhancers	Adipose Nuclei	Adipose
42	chr10:5112200-5112400	ZNF genes & repeats	K562	blood
43	chr10:5112200-5112800	Enhancers	NHDF-Ad	bronchial
44	chr10:5112200-5114000	Enhancers	Ovary	ovary
45	chr10:5112400-5112600	Flanking Active TSS	A549	lung
46	chr10:5112400-5112600	Weak transcription	K562	blood
47	chr10:5112400-5112600	Weak transcription	NHLF	lung
48	chr10:5112400-5113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:5112400-5113400	Enhancers	Small Intestine	intestine
50	chr10:5112400-5113800	Enhancers	Psoas Muscle	Psoas

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