Variant report

Variant	rs4972380
Chromosome Location	chr2:149336522-149336523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1020468	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031290	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10454124	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10928399	0.85[EUR][1000 genomes]
rs10928404	0.97[ASN][1000 genomes]
rs10928407	0.99[ASN][1000 genomes]
rs12464036	0.87[ASN][1000 genomes]
rs12468186	0.81[ASN][1000 genomes]
rs12472738	0.95[ASN][1000 genomes]
rs12616115	0.81[ASN][1000 genomes]
rs12619201	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008203	0.81[ASN][1000 genomes]
rs13010027	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13029692	0.82[ASN][1000 genomes]
rs16828816	0.82[ASN][1000 genomes]
rs16828836	0.96[ASN][1000 genomes]
rs16828954	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16828967	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16829006	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829034	0.97[ASN][1000 genomes]
rs1809051	0.81[ASN][1000 genomes]
rs34210886	0.86[ASN][1000 genomes]
rs34324924	0.82[ASN][1000 genomes]
rs34671855	0.88[ASN][1000 genomes]
rs34881950	0.82[ASN][1000 genomes]
rs35057193	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35076661	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35154707	0.97[ASN][1000 genomes]
rs35168772	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs36067597	0.97[ASN][1000 genomes]
rs4972285	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4972369	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972375	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4972381	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972383	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6430323	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6709767	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6743835	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746352	0.96[ASN][1000 genomes]
rs71413623	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs720844	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7571333	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578059	0.97[ASN][1000 genomes]
rs7590549	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597133	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7599758	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7606475	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs764386	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs930651	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs930652	0.80[AMR][1000 genomes];0.97[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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149332800-149336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:149333800-149336800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr2:149334600-149336600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:149335000-149336800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:149335200-149337000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:149335400-149336600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:149335400-149336800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:149335400-149338600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:149335800-149336800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr2:149336200-149336600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr2:149336200-149336800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:149336400-149336600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr2:149336400-149336800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:149336400-149337800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:149336400-149340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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