Variant report

Variant	rs56203039
Chromosome Location	chr2:144757271-144757272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144752188..144754767-chr2:144756517..144758359,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

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]
rs1429098	1.00[EUR][1000 genomes]
rs16823379	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16823411	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16823476	1.00[EUR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3806479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3806480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662368	0.95[EUR][1000 genomes]
rs4662369	1.00[EUR][1000 genomes]
rs55681388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55766236	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55803436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56048525	1.00[EUR][1000 genomes]
rs56181240	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56271766	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56302598	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56317913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56361359	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56385884	0.81[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	chr2:144738200-144761200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:144746400-144773000	Weak transcription	Aorta	Aorta
7	chr2:144752200-144768800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:144754000-144768000	Weak transcription	Psoas Muscle	Psoas
9	chr2:144754000-144778200	Weak transcription	Left Ventricle	heart
10	chr2:144754600-144768000	Weak transcription	Fetal Kidney	kidney
11	chr2:144755200-144761000	Weak transcription	Fetal Lung	lung
12	chr2:144755800-144761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:144755800-144761200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:144756200-144757400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:144756200-144768000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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