Variant report

Variant	rs58696480
Chromosome Location	chr4:110724387-110724388
allele	C/T
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:3)
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	chr4:110724358-110724408	AG04450	lung:	fetal
2	chr4:110724358-110724408	HepG2	liver:	n/a
3	chr4:110724358-110724408	AG09309	skin:	n/a
4	chr4:110724358-110724408	Caco-2	colon:	n/a
5	chr4:110724358-110724408	HCM	heart:	n/a
6	chr4:110724358-110724408	SK-N-SH_RA	brain:	n/a
7	chr4:110724358-110724408	AG04449	skin:	fetal
8	chr4:110724358-110724408	HMEC	breast:	n/a
9	chr4:110724358-110724408	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:110724358-110724408	IMR90	lung:	fetal
11	chr4:110724358-110724408	GM12892	blood:	n/a
12	chr4:110724358-110724408	MCF10A-Er-Src	breast:	n/a
13	chr4:110724358-110724408	HRE	kidney:	n/a
14	chr4:110724358-110724408	K562	blood:	n/a
15	chr4:110724358-110724408	HEK293	kidney:	embryo
16	chr4:110724358-110724408	PFSK-1	brain:	n/a
17	chr4:110724358-110724408	SK-N-MC	brain:	n/a
18	chr4:110724358-110724408	GM12878	blood:	n/a
19	chr4:110724358-110724408	NHDF-neo	bronchial:	n/a
20	chr4:110724358-110724408	HRPEpiC	eye:	n/a
21	chr4:110724358-110724408	HCPEpiC	choroid plexus:	n/a
22	chr4:110724358-110724408	SK-N-SH	brain:	n/a
23	chr4:110724358-110724408	SKMC	muscle:	n/a
24	chr4:110724358-110724408	NT2-D1	testis:	n/a
25	chr4:110724358-110724408	HUVEC	blood vessel:	n/a
26	chr4:110724358-110724408	MCF-7	breast:	n/a
27	chr4:110724358-110724408	NH-A	brain:	n/a
28	chr4:110724358-110724408	RPTEC	kidney:	n/a
29	chr4:110724358-110724408	HRCEpiC	kidney:	n/a
30	chr4:110724358-110724408	LNCaP	prostate:	n/a
31	chr4:110724358-110724408	HEEpiC	esophagus:	n/a
32	chr4:110724358-110724408	ovcar-3	ovarian:	n/a
33	chr4:110724358-110724408	Hela-S3	cervix:	n/a
34	chr4:110724358-110724408	Jurkat	blood:	n/a
35	chr4:110724358-110724408	SAEC	small airway:	n/a
36	chr4:110724358-110724408	GM06990	blood:	n/a
37	chr4:110724358-110724408	A549	lung:	n/a
38	chr4:110724358-110724408	ProgFib	skin:	n/a
39	chr4:110724358-110724408	Hepatocyte	liver:	n/a
40	chr4:110724358-110724408	NHBE	bronchial:	n/a
41	chr4:110724358-110724408	HCF	heart:	n/a
42	chr4:110724358-110724408	ECC-1	luminal epithelium:	n/a
43	chr4:110724358-110724408	U87	brain:	n/a
44	chr4:110724358-110724408	GM19239	blood:	n/a
45	chr4:110724358-110724408	GM12891	blood:	n/a
46	chr4:110724358-110724408	BE2_C	brain:	n/a
47	chr4:110724358-110724408	AG09319	gingival:	n/a
48	chr4:110724358-110724408	PrEC	prostate:	n/a
49	chr4:110724358-110724408	AG10803	skin:	n/a
50	chr4:110724358-110724408	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:110621753..110625851-chr4:110723328..110725382,3	MCF-7	breast:
2	chr4:110705166..110707910-chr4:110724039..110725781,2	K562	blood:
3	chr4:110621205..110625752-chr4:110723387..110726377,6	MCF-7	breast:

No data

Variant related genes	Relation type
CFI	CpG island
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10025263	1.00[AMR][1000 genomes]
rs10049638	1.00[AMR][1000 genomes]
rs13434654	1.00[AMR][1000 genomes]
rs28464381	1.00[AMR][1000 genomes]
rs28527183	1.00[AMR][1000 genomes]
rs28619233	1.00[AMR][1000 genomes]
rs28654134	1.00[AMR][1000 genomes]
rs28871876	1.00[AMR][1000 genomes]
rs72888476	1.00[AMR][1000 genomes]
rs9991131	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110722400-110724400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:110722600-110736200	Weak transcription	Pancreas	Pancrea
3	chr4:110722800-110735800	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:110723400-110725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:110723800-110724400	Enhancers	Small Intestine	intestine
6	chr4:110723800-110724400	Enhancers	K562	blood
7	chr4:110723800-110724600	Enhancers	Gastric	stomach
8	chr4:110723800-110727200	Enhancers	HepG2	liver
9	chr4:110724000-110725000	Weak transcription	Spleen	Spleen
10	chr4:110724000-110725600	Weak transcription	Fetal Intestine Large	intestine
11	chr4:110724000-110725600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:110724000-110725800	Enhancers	Liver	Liver

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