Variant report

Variant	rs563952544
Chromosome Location	chr5:75384329-75384330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75384322-75384372	AG09309	skin:	n/a
2	chr5:75384322-75384372	AG04449	skin:	fetal
3	chr5:75384322-75384372	HMEC	breast:	n/a
4	chr5:75384322-75384372	PrEC	prostate:	n/a
5	chr5:75384322-75384372	HRPEpiC	eye:	n/a
6	chr5:75384322-75384372	Hepatocyte	liver:	n/a
7	chr5:75384322-75384372	MCF10A-Er-Src	breast:	n/a
8	chr5:75384322-75384372	Caco-2	colon:	n/a
9	chr5:75384322-75384372	SAEC	small airway:	n/a
10	chr5:75384322-75384372	HEEpiC	esophagus:	n/a
11	chr5:75384322-75384372	HIPEpiC	eye:	n/a
12	chr5:75384322-75384372	NB4	blood:	n/a
13	chr5:75384322-75384372	HRCEpiC	kidney:	n/a
14	chr5:75384322-75384372	NT2-D1	testis:	n/a
15	chr5:75384322-75384372	HepG2	liver:	n/a
16	chr5:75384322-75384372	SK-N-SH_RA	brain:	n/a
17	chr5:75384322-75384372	PFSK-1	brain:	n/a
18	chr5:75384322-75384372	HAEpiC	amniotic membrane:	n/a
19	chr5:75384322-75384372	CMK	blood:	n/a
20	chr5:75384322-75384372	HRE	kidney:	n/a
21	chr5:75384322-75384372	BJ	skin:	n/a
22	chr5:75384322-75384372	AG10803	skin:	n/a
23	chr5:75384322-75384372	PANC-1	pancreas:	n/a
24	chr5:75384322-75384372	GM12891	blood:	n/a
25	chr5:75384322-75384372	LNCaP	prostate:	n/a
26	chr5:75384322-75384372	SK-N-MC	brain:	n/a
27	chr5:75384322-75384372	K562	blood:	n/a
28	chr5:75384322-75384372	Jurkat	blood:	n/a
29	chr5:75384322-75384372	GM06990	blood:	n/a
30	chr5:75384322-75384372	HNPCEpiC	eye:	n/a
31	chr5:75384322-75384372	IMR90	lung:	fetal
32	chr5:75384322-75384372	HUVEC	blood vessel:	n/a
33	chr5:75384322-75384372	HCT-116	colon:	n/a
34	chr5:75384322-75384372	NHBE	bronchial:	n/a
35	chr5:75384322-75384372	GM19239	blood:	n/a
36	chr5:75384322-75384372	MCF-7	breast:	n/a
37	chr5:75384322-75384372	SK-N-SH	brain:	n/a
38	chr5:75384322-75384372	AG04450	lung:	fetal
39	chr5:75384322-75384372	HCPEpiC	choroid plexus:	n/a
40	chr5:75384322-75384372	ovcar-3	ovarian:	n/a
41	chr5:75384322-75384372	AG09319	gingival:	n/a
42	chr5:75384322-75384372	A549	lung:	n/a
43	chr5:75384322-75384372	HCF	heart:	n/a
44	chr5:75384322-75384372	HL-60	blood:	n/a
45	chr5:75384322-75384372	T-47D	breast:	n/a
46	chr5:75384322-75384372	Hela-S3	cervix:	n/a
47	chr5:75384322-75384372	ProgFib	skin:	n/a
48	chr5:75384322-75384372	RPTEC	kidney:	n/a
49	chr5:75384322-75384372	U87	brain:	n/a
50	chr5:75384322-75384372	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75378752..75382586-chr5:75384314..75388337,4	K562	blood:
2	chr5:75380964..75382586-chr5:75384314..75386293,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248127	CpG island
ENSG00000122012	Chromatin interaction
ENSG00000248127	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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