Variant report

Variant	rs7342997
Chromosome Location	chr18:24804363-24804364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr18:24803449-24804384	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000265374	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11659338	0.95[EUR][1000 genomes]
rs11660384	0.81[CEU][hapmap]
rs11660925	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661183	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661240	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11663112	0.93[EUR][1000 genomes]
rs11663416	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11664424	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11874060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875079	0.94[EUR][1000 genomes]
rs1426870	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593604	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593605	0.95[EUR][1000 genomes]
rs16943384	0.94[EUR][1000 genomes]
rs16943395	0.93[EUR][1000 genomes]
rs16943397	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2006887	0.93[EUR][1000 genomes]
rs2247559	0.83[ASN][1000 genomes]
rs55756763	0.91[EUR][1000 genomes]
rs58269864	0.94[EUR][1000 genomes]
rs59648588	0.95[EUR][1000 genomes]
rs60539757	0.97[EUR][1000 genomes]
rs61499406	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231906	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7241555	0.93[EUR][1000 genomes]
rs7242600	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72639454	0.96[EUR][1000 genomes]
rs72639455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72639456	0.97[EUR][1000 genomes]
rs73408433	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8087045	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087183	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094742	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9635909	0.94[EUR][1000 genomes]
rs9635980	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909474	chr18:24683823-24832023	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv530515	chr18:24704459-24883897	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24803200-24804400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr18:24803200-24804800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:24803400-24804400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:24803400-24804400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:24803400-24804400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:24803400-24804400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:24803400-24804600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:24803400-24804600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:24803400-24804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:24803400-24805000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:24803400-24808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:24803600-24804400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:24803600-24804800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:24803600-24804800	Enhancers	HMEC	breast
15	chr18:24803800-24804400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:24803800-24804400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:24803800-24804600	Enhancers	NHEK	skin
18	chr18:24803800-24804800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:24803800-24804800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:24804000-24804400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr18:24804000-24811200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:24804200-24807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:24804200-24807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links