Variant report

Variant	rs17144657
Chromosome Location	chr5:118132400-118132401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1156413	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1397582	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1397583	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1473231	1.00[AMR][1000 genomes]
rs1510975	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144532	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144539	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144540	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144549	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17144571	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144580	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144586	0.89[ASN][1000 genomes]
rs17144591	0.89[ASN][1000 genomes]
rs17144596	0.89[ASN][1000 genomes]
rs17144602	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17144603	0.95[ASN][1000 genomes]
rs17144604	0.95[ASN][1000 genomes]
rs17144620	0.90[ASN][1000 genomes]
rs17144623	1.00[AMR][1000 genomes]
rs17144624	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17144636	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144640	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144648	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144664	0.90[AMR][1000 genomes]
rs17144732	1.00[AMR][1000 genomes]
rs17144738	1.00[AMR][1000 genomes]
rs17144744	1.00[AMR][1000 genomes]
rs17144795	1.00[AMR][1000 genomes]
rs17144813	1.00[AMR][1000 genomes]
rs17144818	1.00[AMR][1000 genomes]
rs6880225	0.90[AMR][1000 genomes]
rs918389	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
4	chr5:118130400-118135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118130800-118132600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:118131200-118132400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:118131200-118132400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:118131200-118132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:118131200-118132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:118131400-118132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:118131600-118132400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:118131600-118132400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:118131800-118132400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:118132200-118137200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:118132400-118134000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:118132400-118135600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links