Variant report

Variant	rs1864245
Chromosome Location	chr2:144778518-144778519
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	chr2:144776426..144779774-chr2:144785571..144789625,5	K562	blood:
2	chr2:144777373..144779477-chr2:144782772..144785312,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12612842	0.85[ASN][1000 genomes]
rs12613814	1.00[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap]
rs12614766	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MKK][hapmap]
rs12618509	0.85[ASN][1000 genomes]
rs12619798	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12621041	0.85[ASN][1000 genomes]
rs1427310	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap]
rs16823361	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs16823373	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs16823382	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.85[ASN][1000 genomes]
rs16823481	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs16823487	0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs1861878	1.00[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2111671	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs28544584	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28679451	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35790422	0.85[ASN][1000 genomes]
rs3755088	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.81[MKK][hapmap];0.85[ASN][1000 genomes]
rs3820756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55634187	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56090763	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56120346	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56123489	0.85[ASN][1000 genomes]
rs56136411	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56166856	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57677579	0.80[AFR][1000 genomes]
rs58186643	0.85[ASN][1000 genomes]
rs60305932	0.85[ASN][1000 genomes]
rs61202373	0.85[ASN][1000 genomes]
rs72851896	0.85[ASN][1000 genomes]
rs72852907	0.85[ASN][1000 genomes]
rs72852908	0.85[ASN][1000 genomes]
rs72852911	0.85[ASN][1000 genomes]
rs72852913	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72852918	0.85[ASN][1000 genomes]
rs72852924	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72852926	0.96[ASN][1000 genomes]
rs72852929	0.96[ASN][1000 genomes]
rs72852930	0.96[ASN][1000 genomes]
rs72852932	0.96[ASN][1000 genomes]
rs72852936	0.96[ASN][1000 genomes]
rs72852938	0.96[ASN][1000 genomes]
rs72852941	0.96[ASN][1000 genomes]
rs72852947	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72852948	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72852967	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852969	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852982	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72852985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852992	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72852993	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72852998	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72852999	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72853001	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72854106	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73962160	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73962193	0.80[AFR][1000 genomes]
rs73962196	0.80[AFR][1000 genomes]
rs7572132	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9678811	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.85[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	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:11 , 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	chr2:144763000-144784600	Weak transcription	Fetal Stomach	stomach
6	chr2:144765000-144779600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:144773800-144800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:144774200-144778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:144778000-144779000	Weak transcription	Fetal Lung	lung
10	chr2:144778200-144785000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:144778400-144786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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