Variant report

Variant	rs17152254
Chromosome Location	chr11:57790227-57790228
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:0)
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	chr11:57790202-57790252	AG09319	gingival:	n/a
2	chr11:57790202-57790252	HUVEC	blood vessel:	n/a
3	chr11:57790202-57790252	ProgFib	skin:	n/a
4	chr11:57790202-57790252	HCM	heart:	n/a
5	chr11:57790202-57790252	SK-N-MC	brain:	n/a
6	chr11:57790202-57790252	T-47D	breast:	n/a
7	chr11:57790202-57790252	AG10803	skin:	n/a
8	chr11:57790202-57790252	HCPEpiC	choroid plexus:	n/a
9	chr11:57790202-57790252	NHBE	bronchial:	n/a
10	chr11:57790202-57790252	HRE	kidney:	n/a
11	chr11:57790202-57790252	GM12891	blood:	n/a
12	chr11:57790202-57790252	GM06990	blood:	n/a
13	chr11:57790202-57790252	AG09309	skin:	n/a
14	chr11:57790202-57790252	HEEpiC	esophagus:	n/a
15	chr11:57790202-57790252	HCF	heart:	n/a
16	chr11:57790202-57790252	A549	lung:	n/a
17	chr11:57790202-57790252	NB4	blood:	n/a
18	chr11:57790202-57790252	ovcar-3	ovarian:	n/a
19	chr11:57790202-57790252	U87	brain:	n/a
20	chr11:57790202-57790252	HEK293	kidney:	embryo
21	chr11:57790202-57790252	MCF10A-Er-Src	breast:	n/a
22	chr11:57790202-57790252	K562	blood:	n/a
23	chr11:57790202-57790252	AG04449	skin:	fetal
24	chr11:57790202-57790252	HAEpiC	amniotic membrane:	n/a
25	chr11:57790202-57790252	HCT-116	colon:	n/a
26	chr11:57790202-57790252	AG04450	lung:	fetal
27	chr11:57790202-57790252	HRPEpiC	eye:	n/a
28	chr11:57790202-57790252	BJ	skin:	n/a
29	chr11:57790202-57790252	Jurkat	blood:	n/a
30	chr11:57790202-57790252	Hela-S3	cervix:	n/a
31	chr11:57790202-57790252	BE2_C	brain:	n/a
32	chr11:57790202-57790252	HMEC	breast:	n/a
33	chr11:57790202-57790252	GM12892	blood:	n/a
34	chr11:57790202-57790252	HNPCEpiC	eye:	n/a
35	chr11:57790202-57790252	HepG2	liver:	n/a
36	chr11:57790202-57790252	CMK	blood:	n/a
37	chr11:57790202-57790252	PrEC	prostate:	n/a
38	chr11:57790202-57790252	H1-hESC	embryonic stem cell:	embryo
39	chr11:57790202-57790252	SKMC	muscle:	n/a
40	chr11:57790202-57790252	SAEC	small airway:	n/a
41	chr11:57790202-57790252	IMR90	lung:	fetal
42	chr11:57790202-57790252	LNCaP	prostate:	n/a
43	chr11:57790202-57790252	PFSK-1	brain:	n/a
44	chr11:57790202-57790252	HIPEpiC	eye:	n/a
45	chr11:57790202-57790252	RPTEC	kidney:	n/a
46	chr11:57790202-57790252	NT2-D1	testis:	n/a
47	chr11:57790202-57790252	Caco-2	colon:	n/a
48	chr11:57790202-57790252	ECC-1	luminal epithelium:	n/a
49	chr11:57790202-57790252	SK-N-SH_RA	brain:	n/a
50	chr11:57790202-57790252	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
OR9Q1	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11229181	1.00[EUR][1000 genomes]
rs11229182	1.00[EUR][1000 genomes]
rs12273150	1.00[EUR][1000 genomes]
rs12295135	1.00[EUR][1000 genomes]
rs1447176	1.00[EUR][1000 genomes]
rs17152248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152435	1.00[EUR][1000 genomes]
rs17152440	1.00[EUR][1000 genomes]
rs17152444	1.00[EUR][1000 genomes]
rs17152453	1.00[EUR][1000 genomes]
rs17152457	1.00[EUR][1000 genomes]
rs17152464	1.00[EUR][1000 genomes]
rs17152465	1.00[EUR][1000 genomes]
rs17152479	1.00[EUR][1000 genomes]
rs2084298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441954	1.00[AMR][1000 genomes]
rs2441978	1.00[EUR][1000 genomes]
rs2443451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514198	1.00[EUR][1000 genomes]
rs2514203	1.00[EUR][1000 genomes]
rs896298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs896299	1.00[EUR][1000 genomes]
rs975831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57785800-57791400	Weak transcription	Pancreas	Pancrea
2	chr11:57787800-57794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:57789400-57791400	Weak transcription	Left Ventricle	heart
4	chr11:57789600-57791400	Weak transcription	Psoas Muscle	Psoas
5	chr11:57790000-57790400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:57790000-57791400	Enhancers	Adipose Nuclei	Adipose
7	chr11:57790000-57791600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:57790200-57790600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:57790200-57790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:57790200-57792600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:57790200-57792800	Enhancers	Fetal Muscle Leg	muscle

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