Variant report

Variant	rs61972223
Chromosome Location	chr13:48481380-48481381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1104351	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840968	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12874522	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326133	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326137	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359616	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886977	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094190	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094193	1.00[ASN][1000 genomes]
rs2094195	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104481	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148940	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182378	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406694	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862747	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941618	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941620	1.00[ASN][1000 genomes]
rs4941624	1.00[ASN][1000 genomes]
rs4942720	1.00[ASN][1000 genomes]
rs4942721	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942724	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942732	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942734	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942736	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942740	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942746	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972210	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972227	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973264	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973265	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973266	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974562	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974563	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974564	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974579	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561414	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561416	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561421	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561425	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561426	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323702	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323821	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324368	0.80[EUR][1000 genomes]
rs7325175	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326418	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329137	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329266	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329615	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332363	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332994	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335797	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336170	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990099	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990541	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991892	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996051	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996581	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998786	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001032	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8001509	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002482	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002847	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs840428	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840429	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840432	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840435	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840437	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840439	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316340	1.00[ASN][1000 genomes]
rs943066	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943067	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526419	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526431	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534884	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562792	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567988	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
2	chr13:48468600-48485600	Weak transcription	Gastric	stomach
3	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:48472000-48482200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:48472200-48482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:48472200-48482400	Weak transcription	NHEK	skin
7	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
9	chr13:48478200-48482600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:48478600-48490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48478800-48491000	Weak transcription	Adipose Nuclei	Adipose
12	chr13:48478800-48491800	Weak transcription	Left Ventricle	heart
13	chr13:48478800-48492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:48479400-48488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:48479600-48482600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:48481000-48493000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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