Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168300197..168302893-chr1:168310234..168313350,3	K562	blood:
2	chr1:168303642..168305967-chr1:168309670..168312067,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10465552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860403	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860434	0.80[ASN][1000 genomes]
rs16860445	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs1886004	0.80[ASN][1000 genomes]
rs2076061	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2223293	0.80[ASN][1000 genomes]
rs2235299	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268561	0.80[ASN][1000 genomes]
rs2268563	0.86[ASN][1000 genomes]
rs2268565	0.86[ASN][1000 genomes]
rs2268566	0.86[ASN][1000 genomes]
rs2284758	0.84[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs2284759	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs2284760	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs2284762	0.93[ASN][1000 genomes]
rs57956428	0.80[ASN][1000 genomes]
rs59227453	0.90[ASN][1000 genomes]
rs6672853	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7512612	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512814	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551330	0.89[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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr1:168283800-168312800	Weak transcription	Spleen	Spleen
2	chr1:168291000-168311800	Weak transcription	Ovary	ovary
3	chr1:168294400-168310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:168302200-168311200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:168305200-168310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:168308400-168311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:168308800-168311600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:168309200-168311200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:168309800-168311200	Enhancers	K562	blood
10	chr1:168310000-168311800	Enhancers	GM12878-XiMat	blood
11	chr1:168310000-168312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:168310200-168311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:168310200-168311800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:168310200-168312400	Enhancers	HMEC	breast
15	chr1:168310400-168311800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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