Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:25341537..25343849-chr10:25349173..25350705,2	K562	blood:
2	chr10:25340489..25343849-chr10:25349173..25351054,3	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10764518	1.00[YRI][hapmap]
rs10828747	0.83[ASN][1000 genomes]
rs10828750	0.84[ASN][1000 genomes]
rs10828751	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs11014362	0.83[ASN][1000 genomes]
rs11014365	0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs11014366	1.00[YRI][hapmap]
rs11014367	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs11014368	0.83[ASN][1000 genomes]
rs12219239	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12241661	0.92[ASN][1000 genomes]
rs12243323	1.00[YRI][hapmap]
rs12414202	0.81[JPT][hapmap]
rs1352982	0.81[ASN][1000 genomes]
rs1907791	0.82[ASN][1000 genomes]
rs1963584	0.91[ASN][1000 genomes]
rs2131275	0.91[ASN][1000 genomes]
rs2131276	1.00[YRI][hapmap]
rs2220707	0.82[ASN][1000 genomes]
rs2367507	0.91[ASN][1000 genomes]
rs4237369	0.92[ASN][1000 genomes]
rs4508094	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs4749000	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4749001	0.83[ASN][1000 genomes]
rs6482468	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7896122	0.92[ASN][1000 genomes]
rs7898431	0.84[ASN][1000 genomes]
rs7911863	0.92[ASN][1000 genomes]
rs7913853	1.00[YRI][hapmap]
rs902906	0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[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	nsv550224	chr10:25335854-25385858	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1036683	chr10:25337592-25398119	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12243641	PTCHD3	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25337400-25348200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:25337600-25348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:25338200-25348400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:25341000-25345600	Weak transcription	Fetal Intestine Large	intestine
5	chr10:25341200-25345800	Weak transcription	Liver	Liver
6	chr10:25342000-25345200	Weak transcription	Fetal Intestine Small	intestine

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