Variant report

Variant	rs11568927
Chromosome Location	chr4:110880633-110880634
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	chr4:110879135..110880960-chr4:110896345..110898821,2	K562	blood:
2	chr4:110736083..110738603-chr4:110880229..110882607,2	K562	blood:

Variant related genes	Relation type
ENSG00000272795	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000138798	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10434002	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11098058	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11568853	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11568862	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11568886	0.99[ASN][1000 genomes]
rs11568901	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11568910	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11568924	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11568925	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11568941	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11568946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11568975	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11568990	0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11568991	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11569003	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11569129	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs16997106	1.00[AMR][1000 genomes]
rs17040989	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17040990	0.91[CHB][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17041036	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17041134	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1860131	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2074389	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2237043	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2237046	0.91[ASN][1000 genomes]
rs2237047	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2237048	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2282782	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2282783	0.98[ASN][1000 genomes]
rs2282786	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2298980	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2298984	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2298987	0.98[ASN][1000 genomes]
rs2298988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2298994	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2298995	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2298997	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2298998	0.81[ASN][1000 genomes]
rs2302135	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3733628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3756264	0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3796942	0.81[ASN][1000 genomes]
rs3796943	0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3796949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3822285	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs4631111	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59242631	0.90[ASN][1000 genomes]
rs887027	0.90[ASN][1000 genomes]
rs9307346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv3408360	chr4:110880357-110880695	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110869600-110888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:110872000-110883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110872000-110885200	Weak transcription	Left Ventricle	heart
5	chr4:110874400-110889000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
7	chr4:110877000-110880800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:110879400-110883000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:110880200-110883600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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