Variant report

Variant	rs1865800
Chromosome Location	chr12:64694724-64694725
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	chr12:64687158..64689074-chr12:64693462..64696115,3	K562	blood:

Variant related genes	Relation type
ENSG00000185306	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1002392	0.84[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs10735919	0.84[AFR][1000 genomes]
rs10784390	0.83[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs10784392	0.83[CHB][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs10784394	0.83[CHB][hapmap];0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10784397	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs10784398	0.86[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10784400	0.84[AFR][1000 genomes]
rs10878128	0.84[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs10878129	0.83[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs10878130	0.84[CHB][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs10878131	0.84[CHB][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs10878132	0.87[AFR][1000 genomes]
rs10878134	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs10878135	0.81[ASN][1000 genomes]
rs10878140	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10878141	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10878142	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11175302	0.81[AFR][1000 genomes]
rs11175307	0.84[CHB][hapmap]
rs11175308	0.82[CHB][hapmap]
rs11175341	0.82[YRI][hapmap]
rs1162974	0.84[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1162976	0.83[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs1162977	0.83[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs1178702	0.83[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs1178703	0.83[CHB][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs1185525	0.83[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs12309193	0.83[CHB][hapmap]
rs12581905	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs1347576	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1436362	0.80[CHB][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1436363	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1545098	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1695105	0.87[CHB][hapmap]
rs1865791	0.83[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs1865797	0.81[AFR][1000 genomes]
rs1865798	0.84[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs1898220	0.83[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1978794	0.84[AFR][1000 genomes]
rs2010889	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs2010893	0.84[CHB][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs2082950	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2164503	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2334885	0.84[AFR][1000 genomes]
rs2878281	0.83[AFR][1000 genomes]
rs4076831	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4631982	0.84[AFR][1000 genomes]
rs4763009	0.82[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs4763010	0.83[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs4763143	0.84[AFR][1000 genomes]
rs4763144	0.84[CHB][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs4763145	0.84[CHB][hapmap];0.87[AFR][1000 genomes]
rs4763146	0.84[CHB][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs4763147	0.84[CHB][hapmap]
rs4763148	0.87[AFR][1000 genomes]
rs4763149	0.81[AFR][1000 genomes]
rs4763150	0.82[CHB][hapmap]
rs5015814	0.81[AFR][1000 genomes]
rs5015816	0.84[AFR][1000 genomes]
rs5015817	0.84[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs5015818	0.84[CHB][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs61931479	0.82[ASN][1000 genomes]
rs6581534	0.83[CHB][hapmap]
rs7133521	0.87[YRI][hapmap]
rs7135135	0.87[YRI][hapmap]
rs7303208	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7306905	0.84[CHB][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7313249	0.82[ASN][1000 genomes]
rs789721	0.87[CHB][hapmap]
rs789749	0.87[CHB][hapmap]
rs7954838	0.81[ASN][1000 genomes]
rs7956726	0.83[CHB][hapmap]
rs7962466	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7969382	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7971787	0.80[ASN][1000 genomes]
rs7973109	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7975823	0.96[YRI][hapmap]
rs7976659	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64687800-64705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:64693000-64701800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:64694400-64696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:64694400-64698000	Weak transcription	Fetal Kidney	kidney

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