Variant report

Variant	rs2859267
Chromosome Location	chr12:121075610-121075611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:121075342-121075627	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121075585-121075635	NH-A	brain:	n/a
2	chr12:121075585-121075635	LNCaP	prostate:	n/a
3	chr12:121075585-121075635	SKMC	muscle:	n/a
4	chr12:121075585-121075635	ProgFib	skin:	n/a
5	chr12:121075585-121075635	NB4	blood:	n/a
6	chr12:121075585-121075635	HL-60	blood:	n/a
7	chr12:121075585-121075635	HepG2	liver:	n/a
8	chr12:121075585-121075635	GM12891	blood:	n/a
9	chr12:121075585-121075635	AG10803	skin:	n/a
10	chr12:121075585-121075635	NT2-D1	testis:	n/a
11	chr12:121075585-121075635	SK-N-SH_RA	brain:	n/a
12	chr12:121075585-121075635	AoSMC	blood vessel:	n/a
13	chr12:121075585-121075635	PANC-1	pancreas:	n/a
14	chr12:121075585-121075635	Caco-2	colon:	n/a
15	chr12:121075585-121075635	GM19239	blood:	n/a
16	chr12:121075585-121075635	ECC-1	luminal epithelium:	n/a
17	chr12:121075585-121075635	RPTEC	kidney:	n/a
18	chr12:121075585-121075635	H1-hESC	embryonic stem cell:	embryo
19	chr12:121075585-121075635	U87	brain:	n/a
20	chr12:121075585-121075635	AG04450	lung:	fetal
21	chr12:121075585-121075635	SK-N-MC	brain:	n/a
22	chr12:121075585-121075635	HRCEpiC	kidney:	n/a
23	chr12:121075585-121075635	HEK293	kidney:	embryo
24	chr12:121075585-121075635	PFSK-1	brain:	n/a
25	chr12:121075585-121075635	HCF	heart:	n/a
26	chr12:121075585-121075635	CMK	blood:	n/a
27	chr12:121075585-121075635	K562	blood:	n/a
28	chr12:121075585-121075635	HRPEpiC	eye:	n/a
29	chr12:121075585-121075635	HRE	kidney:	n/a
30	chr12:121075585-121075635	GM12878	blood:	n/a
31	chr12:121075585-121075635	MCF-7	breast:	n/a
32	chr12:121075585-121075635	T-47D	breast:	n/a
33	chr12:121075585-121075635	HUVEC	blood vessel:	n/a
34	chr12:121075585-121075635	Hela-S3	cervix:	n/a
35	chr12:121075585-121075635	PrEC	prostate:	n/a
36	chr12:121075585-121075635	ovcar-3	ovarian:	n/a
37	chr12:121075585-121075635	BE2_C	brain:	n/a
38	chr12:121075585-121075635	HCPEpiC	choroid plexus:	n/a
39	chr12:121075585-121075635	Jurkat	blood:	n/a
40	chr12:121075585-121075635	BJ	skin:	n/a
41	chr12:121075585-121075635	A549	lung:	n/a
42	chr12:121075585-121075635	HCT-116	colon:	n/a
43	chr12:121075585-121075635	MCF10A-Er-Src	breast:	n/a
44	chr12:121075585-121075635	HMEC	breast:	n/a
45	chr12:121075585-121075635	GM12892	blood:	n/a
46	chr12:121075585-121075635	SK-N-SH	brain:	n/a
47	chr12:121075585-121075635	HAEpiC	amniotic membrane:	n/a
48	chr12:121075585-121075635	HCM	heart:	n/a
49	chr12:121075585-121075635	HNPCEpiC	eye:	n/a
50	chr12:121075585-121075635	NHBE	bronchial:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121074234..121076359-chr12:121087348..121089944,2	K562	blood:
3	chr12:121071082..121074482-chr12:121074766..121077938,3	K562	blood:
4	chr12:121072186..121075880-chr12:121076438..121081200,4	K562	blood:

No data

Variant related genes	Relation type
CABP1	TF binding region
CABP1	CpG island
ENSG00000157782	Chromatin interaction
ENSG00000256008	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1151874	0.90[ASN][1000 genomes]
rs1616213	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686553	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686556	0.80[EUR][1000 genomes]
rs2859264	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2859265	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs508699	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs553328	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56182086	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs693074	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7299238	0.80[EUR][1000 genomes]
rs73405665	0.82[EUR][1000 genomes]
rs7955217	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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