Variant report

Variant	rs56317913
Chromosome Location	chr2:144770072-144770073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144768638..144770617-chr2:144770631..144772197,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10173322	0.95[EUR][1000 genomes]
rs10197599	0.95[EUR][1000 genomes]
rs10439175	0.95[EUR][1000 genomes]
rs10439191	1.00[EUR][1000 genomes]
rs13406608	1.00[EUR][1000 genomes]
rs13406634	0.95[EUR][1000 genomes]
rs13411437	0.95[EUR][1000 genomes]
rs13415860	0.95[EUR][1000 genomes]
rs13416245	1.00[EUR][1000 genomes]
rs1344628	0.95[EUR][1000 genomes]
rs1429096	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1429098	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16823379	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16823411	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16823476	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823541	0.95[EUR][1000 genomes]
rs16848271	1.00[EUR][1000 genomes]
rs16855315	0.95[EUR][1000 genomes]
rs2303544	0.95[EUR][1000 genomes]
rs28420848	1.00[EUR][1000 genomes]
rs28479091	1.00[EUR][1000 genomes]
rs28705915	1.00[EUR][1000 genomes]
rs3806478	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806479	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4662363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4662368	0.95[EUR][1000 genomes]
rs4662369	1.00[EUR][1000 genomes]
rs55681388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55766236	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55803436	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55922892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56048525	1.00[EUR][1000 genomes]
rs56181240	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56203039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56271766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302598	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56361359	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707579	0.95[EUR][1000 genomes]
rs6726343	1.00[EUR][1000 genomes]
rs73008247	0.95[EUR][1000 genomes]
rs73964929	0.95[EUR][1000 genomes]
rs7563626	0.95[EUR][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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
2	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
3	chr2:144726200-144780800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:144735800-144800400	Weak transcription	Ovary	ovary
5	chr2:144746400-144773000	Weak transcription	Aorta	Aorta
6	chr2:144754000-144778200	Weak transcription	Left Ventricle	heart
7	chr2:144762600-144777800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:144763000-144784600	Weak transcription	Fetal Stomach	stomach
9	chr2:144765000-144779600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:144767200-144770600	Enhancers	NHEK	skin
11	chr2:144768000-144770600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:144769200-144770200	Enhancers	HMEC	breast
13	chr2:144770000-144770200	Enhancers	Fetal Kidney	kidney
14	chr2:144770000-144771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:144770000-144772800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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