Variant report

Variant	rs7591850
Chromosome Location	chr2:67130829-67130830
allele	C/G
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:0)
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	GATA2	chr2:67130329-67130921	SH-SY5Y	brain:	n/a	chr2:67130590-67130600 chr2:67130728-67130741 chr2:67130579-67130596

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:67130784-67130834	HAEpiC	amniotic membrane:	n/a
2	chr2:67130784-67130834	SAEC	small airway:	n/a
3	chr2:67130784-67130834	SK-N-SH_RA	brain:	n/a
4	chr2:67130784-67130834	HRCEpiC	kidney:	n/a
5	chr2:67130784-67130834	PrEC	prostate:	n/a
6	chr2:67130784-67130834	HEK293	kidney:	embryo
7	chr2:67130784-67130834	HRPEpiC	eye:	n/a
8	chr2:67130784-67130834	GM12891	blood:	n/a
9	chr2:67130784-67130834	SK-N-SH	brain:	n/a
10	chr2:67130784-67130834	HepG2	liver:	n/a
11	chr2:67130784-67130834	AG10803	skin:	n/a
12	chr2:67130784-67130834	ProgFib	skin:	n/a
13	chr2:67130784-67130834	NH-A	brain:	n/a
14	chr2:67130784-67130834	Caco-2	colon:	n/a
15	chr2:67130784-67130834	GM12878	blood:	n/a
16	chr2:67130784-67130834	H1-hESC	embryonic stem cell:	embryo
17	chr2:67130784-67130834	ECC-1	luminal epithelium:	n/a
18	chr2:67130784-67130834	RPTEC	kidney:	n/a
19	chr2:67130784-67130834	SK-N-MC	brain:	n/a
20	chr2:67130784-67130834	PANC-1	pancreas:	n/a
21	chr2:67130784-67130834	HCF	heart:	n/a
22	chr2:67130784-67130834	AG04450	lung:	fetal
23	chr2:67130784-67130834	GM12892	blood:	n/a
24	chr2:67130784-67130834	BE2_C	brain:	n/a
25	chr2:67130784-67130834	T-47D	breast:	n/a
26	chr2:67130784-67130834	AG09319	gingival:	n/a
27	chr2:67130784-67130834	Hela-S3	cervix:	n/a
28	chr2:67130784-67130834	K562	blood:	n/a
29	chr2:67130784-67130834	NB4	blood:	n/a
30	chr2:67130784-67130834	HL-60	blood:	n/a
31	chr2:67130784-67130834	LNCaP	prostate:	n/a
32	chr2:67130784-67130834	NHDF-neo	bronchial:	n/a
33	chr2:67130784-67130834	NHBE	bronchial:	n/a
34	chr2:67130784-67130834	HEEpiC	esophagus:	n/a
35	chr2:67130784-67130834	NT2-D1	testis:	n/a
36	chr2:67130784-67130834	GM19239	blood:	n/a
37	chr2:67130784-67130834	MCF-7	breast:	n/a
38	chr2:67130784-67130834	BJ	skin:	n/a
39	chr2:67130784-67130834	SKMC	muscle:	n/a
40	chr2:67130784-67130834	Hepatocyte	liver:	n/a
41	chr2:67130784-67130834	A549	lung:	n/a
42	chr2:67130784-67130834	HNPCEpiC	eye:	n/a
43	chr2:67130784-67130834	U87	brain:	n/a
44	chr2:67130784-67130834	GM06990	blood:	n/a
45	chr2:67130784-67130834	AoSMC	blood vessel:	n/a
46	chr2:67130784-67130834	HUVEC	blood vessel:	n/a
47	chr2:67130784-67130834	AG04449	skin:	fetal
48	chr2:67130784-67130834	HRE	kidney:	n/a
49	chr2:67130784-67130834	HCT-116	colon:	n/a
50	chr2:67130784-67130834	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000230525	TF binding region
ENSG00000230525	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12467586	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17587626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17631953	0.98[ASN][1000 genomes]
rs36122997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732047	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721312	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6731610	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809732	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7419773	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs868373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874247	chr2:67105342-67141322	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7591850	MEIS1	cis	cerebellum	SCAN
rs7591850	APLF	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67130000-67131000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:67130800-67134200	Weak transcription	Fetal Heart	heart

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