Variant report

Variant	nsv5295
Chromosome Location	chr6:49955078-50007710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:356)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:49998553-49998934	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:49998656-49998893	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr6:49998569-49999027	K562	blood:	n/a	n/a
4	BRCA1	chr6:49975507-49975876	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr6:49998721-49998977	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr6:49964146-49964148	GM12878	blood:	n/a	n/a
7	CBX3	chr6:49998582-49998910	K562	blood:	n/a	n/a
8	CCNT2	chr6:49998652-49998848	K562	blood:	n/a	n/a
9	CEBPB	chr6:49998410-49998716	K562	blood:	n/a	chr6:49998533-49998544
10	CEBPB	chr6:49998428-49998629	HepG2	liver:	n/a	chr6:49998533-49998544
11	CEBPB	chr6:49993137-49993267	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:49975564-49975858	HCT-116	colon:	n/a	n/a
13	CEBPB	chr6:49998941-49999059	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:49998381-49998833	K562	blood:	n/a	chr6:49998533-49998544
15	CEBPB	chr6:49998462-49998924	MCF-7	breast:	n/a	chr6:49998533-49998544
16	CEBPB	chr6:49962881-49963307	HepG2	liver:	n/a	chr6:49963216-49963227 chr6:49962977-49962990 chr6:49962979-49962988 chr6:49962977-49962988 chr6:49963213-49963230
17	CEBPB	chr6:49973486-49973969	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr6:49975532-49975957	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:49998368-49998736	H1-hESC	embryonic stem cell:	n/a	chr6:49998533-49998544
20	CEBPB	chr6:49981366-49981677	HepG2	liver:	n/a	chr6:49981521-49981530 chr6:49981521-49981530
21	CEBPB	chr6:49980235-49980373	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:49975568-49975928	IMR90	lung:	n/a	n/a
23	CEBPB	chr6:49998474-49998605	K562	blood:	n/a	chr6:49998533-49998544
24	CHD1	chr6:49998967-49998987	GM12878	blood:	n/a	n/a
25	CHD2	chr6:49998508-49998992	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr6:49998540-49998690	HRE	kidney:	n/a	n/a
27	CTCF	chr6:49998760-49998910	AG10803	skin:	n/a	n/a
28	CTCF	chr6:49998749-49998961	GM13977	blood:	n/a	n/a
29	CTCF	chr6:49998698-49998963	HepG2	liver:	n/a	n/a
30	CTCF	chr6:49998701-49998964	GM19238	blood:	n/a	n/a
31	CTCF	chr6:49998742-49998968	LNCaP	prostate:	n/a	n/a
32	CTCF	chr6:49998773-49998945	GM10248	blood:	n/a	n/a
33	CTCF	chr6:49998760-49998910	AG04449	skin:	n/a	n/a
34	CTCF	chr6:49998820-49998970	RPTEC	kidney:	n/a	n/a
35	CTCF	chr6:49958604-49958850	K562	blood:	n/a	n/a
36	CTCF	chr6:49998692-49998968	NHEK	skin:	n/a	n/a
37	CTCF	chr6:49998740-49998975	IMR90	lung:	n/a	n/a
38	CTCF	chr6:49998780-49998930	GM12867	blood:	n/a	n/a
39	CTCF	chr6:49997940-49998090	K562	blood:	n/a	n/a
40	CTCF	chr6:49998704-49998946	ProgFib	skin:	n/a	n/a
41	CTCF	chr6:49990374-49990413	GM10266	blood:	n/a	n/a
42	CTCF	chr6:49998381-49999063	K562	blood:	n/a	n/a
43	CTCF	chr6:49998800-49998950	GM12865	blood:	n/a	n/a
44	CTCF	chr6:49998380-49998530	GM12872	blood:	n/a	n/a
45	CTCF	chr6:49998464-49998954	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:49998780-49998930	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:49998740-49998890	HPF	lung:	n/a	n/a
48	CTCF	chr6:49998734-49998968	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr6:49998780-49998930	AG04450	lung:	n/a	n/a
50	CTCF	chr6:49998495-49998661	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:49988602-49988652	GM12891	blood:	n/a
2	chr6:49988602-49988652	ProgFib	skin:	n/a
3	chr6:49986643-49986693	PrEC	prostate:	n/a
4	chr6:49988602-49988652	AG10803	skin:	n/a
5	chr6:49988602-49988652	HRCEpiC	kidney:	n/a
6	chr6:49986643-49986693	HEK293	kidney:	embryo
7	chr6:49988602-49988652	HIPEpiC	eye:	n/a
8	chr6:49986643-49986693	AG04450	lung:	fetal
9	chr6:49988602-49988652	HNPCEpiC	eye:	n/a
10	chr6:49986643-49986693	RPTEC	kidney:	n/a
11	chr6:49988602-49988652	H1-hESC	embryonic stem cell:	embryo
12	chr6:49988602-49988652	GM12892	blood:	n/a
13	chr6:49988602-49988652	IMR90	lung:	fetal
14	chr6:49988602-49988652	RPTEC	kidney:	n/a
15	chr6:49988602-49988652	HL-60	blood:	n/a
16	chr6:49988602-49988652	ECC-1	luminal epithelium:	n/a
17	chr6:49988602-49988652	HRPEpiC	eye:	n/a
18	chr6:49986643-49986693	MCF10A-Er-Src	breast:	n/a
19	chr6:49986643-49986693	HRCEpiC	kidney:	n/a
20	chr6:49988602-49988652	SK-N-MC	brain:	n/a
21	chr6:49986643-49986693	HCT-116	colon:	n/a
22	chr6:49986643-49986693	AG10803	skin:	n/a
23	chr6:49986643-49986693	BE2_C	brain:	n/a
24	chr6:49986643-49986693	SK-N-MC	brain:	n/a
25	chr6:49988602-49988652	K562	blood:	n/a
26	chr6:49986643-49986693	ECC-1	luminal epithelium:	n/a
27	chr6:49986643-49986693	BJ	skin:	n/a
28	chr6:49986643-49986693	HEEpiC	esophagus:	n/a
29	chr6:49986643-49986693	HIPEpiC	eye:	n/a
30	chr6:49988602-49988652	HepG2	liver:	n/a
31	chr6:49988602-49988652	SAEC	small airway:	n/a
32	chr6:49988602-49988652	PFSK-1	brain:	n/a
33	chr6:49986643-49986693	Hela-S3	cervix:	n/a
34	chr6:49988602-49988652	GM12878	blood:	n/a
35	chr6:49988602-49988652	AG09319	gingival:	n/a
36	chr6:49986643-49986693	AG09309	skin:	n/a
37	chr6:49988602-49988652	HAEpiC	amniotic membrane:	n/a
38	chr6:49988602-49988652	PrEC	prostate:	n/a
39	chr6:49988602-49988652	LNCaP	prostate:	n/a
40	chr6:49988602-49988652	GM06990	blood:	n/a
41	chr6:49986643-49986693	GM12892	blood:	n/a
42	chr6:49988602-49988652	HMEC	breast:	n/a
43	chr6:49988602-49988652	NH-A	brain:	n/a
44	chr6:49986643-49986693	ProgFib	skin:	n/a
45	chr6:49986643-49986693	HNPCEpiC	eye:	n/a
46	chr6:49988602-49988652	CMK	blood:	n/a
47	chr6:49986643-49986693	LNCaP	prostate:	n/a
48	chr6:49988602-49988652	NT2-D1	testis:	n/a
49	chr6:49986643-49986693	T-47D	breast:	n/a
50	chr6:49986643-49986693	HMEC	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49952757..49954600-chr6:49977034..49979373,2	MCF-7	breast:
2	chr6:49983884..49985560-chr6:49990583..49992568,3	K562	blood:
3	chr6:49979164..49982101-chr6:49984391..49986796,2	K562	blood:
4	chr6:49979164..49982101-chr6:49984391..49986796,2	K562	blood:
5	chr6:49499933..49500477-chr6:49998395..49998919,2	K562	blood:
6	chr6:49972260..49974048-chr6:49980191..49981911,2	K562	blood:
7	chr6:49972260..49974048-chr6:49980191..49981911,2	K562	blood:
8	chr6:49979164..49981646-chr6:49985287..49986796,2	K562	blood:
9	chr6:49979164..49981646-chr6:49985287..49986796,2	K562	blood:
10	chr6:49983884..49985560-chr6:49990583..49992568,3	K562	blood:
11	chr6:49962201..49964799-chr6:50021100..50023461,2	K562	blood:

No data

Variant related genes	Relation type
DEFB110	TF binding region
DEFB110	CpG island

Extended variants
information (count: 381 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528936766	chr6:49958000-49958001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548816405	chr6:49958060-49958061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569374580	chr6:49958063-49958064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72864872	chr6:49958084-49958085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551193214	chr6:49958129-49958130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369735592	chr6:49958131-49958132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571190080	chr6:49958140-49958141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527783581	chr6:49962472-49962473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9296623	chr6:49962489-49962490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs578000531	chr6:49962552-49962553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564305491	chr6:49962564-49962565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533369399	chr6:49962571-49962572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549988866	chr6:49962572-49962573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578250783	chr6:49962575-49962576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376778127	chr6:49962610-49962611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529598345	chr6:49962624-49962625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548161607	chr6:49962632-49962633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553716697	chr6:49962640-49962641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567963826	chr6:49962657-49962658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139049934	chr6:49962669-49962670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185644437	chr6:49962702-49962703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570633754	chr6:49962711-49962712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539624428	chr6:49962719-49962720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190408618	chr6:49962726-49962727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115345024	chr6:49962753-49962754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545793034	chr6:49962939-49962940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181285285	chr6:49963008-49963009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555687779	chr6:49963023-49963024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62406392	chr6:49963084-49963085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72864882	chr6:49963128-49963129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9369930	chr6:49963157-49963158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185915954	chr6:49963203-49963204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190840372	chr6:49963215-49963216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79449874	chr6:49963249-49963250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563036398	chr6:49963250-49963251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9381835	chr6:49963266-49963267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543599490	chr6:49963279-49963280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563773890	chr6:49963323-49963324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183938379	chr6:49963338-49963339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549423266	chr6:49963365-49963366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572823480	chr6:49963405-49963406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568017687	chr6:49963428-49963429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527307955	chr6:49963455-49963456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9473708	chr6:49963465-49963466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561748156	chr6:49963491-49963492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114862074	chr6:49963492-49963493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34295806	chr6:49963511-49963512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77757484	chr6:49963526-49963527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187855222	chr6:49963632-49963633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544101979	chr6:49963747-49963748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49958000-49958200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:49962400-49965000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:49962800-49963800	Enhancers	Liver	Liver
4	chr6:49973600-49976400	Enhancers	Hela-S3	cervix
5	chr6:49975200-49976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:49975200-49976200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:49975200-49976200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:49975200-49976200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:49975200-49977200	Enhancers	NHEK	skin
10	chr6:49975400-49976200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:49975400-49976200	Enhancers	HMEC	breast
12	chr6:49975400-49976200	Enhancers	NH-A	brain
13	chr6:49975600-49975800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:49975600-49976000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:49975600-49976000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:49975600-49976200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:49975600-49976200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:49992800-49993800	Enhancers	Hela-S3	cervix
19	chr6:49998000-49998600	Active TSS	K562	blood
20	chr6:49998200-49998400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:49998200-49998800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:49998400-49998600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:49998400-49998600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:49998400-49998800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:49998400-49998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:49998400-49998800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:49998400-49998800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:49998400-49998800	Active TSS	HepG2	liver
29	chr6:49998400-49999000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:49998600-49998800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:49998600-49998800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:49998600-49998800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:49998600-49998800	Flanking Active TSS	K562	blood
34	chr6:49998600-49999000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:49998800-49999200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:49999000-49999200	Enhancers	HUES6 Cell Line	embryonic stem cell

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