Variant report

Variant	rs5763825
Chromosome Location	chr22:30552695-30552696
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	chr22:30552521..30555409-chr22:30604715..30606658,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1122239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160671	1.00[ASN][1000 genomes]
rs12233358	0.82[ASN][1000 genomes]
rs12483946	0.92[CHB][hapmap]
rs12484547	0.97[ASN][1000 genomes]
rs12484983	0.81[CHB][hapmap]
rs12537	0.82[CHD][hapmap]
rs13053765	0.94[ASN][1000 genomes]
rs13054837	0.97[ASN][1000 genomes]
rs13055998	0.88[CHB][hapmap]
rs13056332	0.97[ASN][1000 genomes]
rs13056990	0.94[ASN][1000 genomes]
rs13057204	0.82[ASN][1000 genomes]
rs13057580	0.97[ASN][1000 genomes]
rs13057878	0.97[ASN][1000 genomes]
rs1476514	0.92[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2012308	0.82[ASN][1000 genomes]
rs2106722	0.98[ASN][1000 genomes]
rs2214047	0.97[ASN][1000 genomes]
rs2412961	0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap]
rs2412977	0.97[ASN][1000 genomes]
rs2412979	0.97[ASN][1000 genomes]
rs34391152	0.84[ASN][1000 genomes]
rs34420020	0.91[ASN][1000 genomes]
rs34474867	0.97[ASN][1000 genomes]
rs34545612	0.97[ASN][1000 genomes]
rs35067150	0.91[ASN][1000 genomes]
rs35539897	0.84[ASN][1000 genomes]
rs35710453	0.85[ASN][1000 genomes]
rs36018230	0.85[ASN][1000 genomes]
rs3788422	0.84[CHB][hapmap]
rs41177	0.89[LWK][hapmap]
rs4820829	0.97[ASN][1000 genomes]
rs4823067	0.82[ASN][1000 genomes]
rs4823071	0.94[ASN][1000 genomes]
rs4823080	0.92[CHB][hapmap]
rs5753002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5753007	0.83[ASN][1000 genomes]
rs5753013	0.97[ASN][1000 genomes]
rs5753014	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5753015	0.97[ASN][1000 genomes]
rs5753019	0.97[ASN][1000 genomes]
rs5753020	0.97[ASN][1000 genomes]
rs5753022	0.97[ASN][1000 genomes]
rs5753027	1.00[ASN][1000 genomes]
rs5753028	0.97[ASN][1000 genomes]
rs5753029	0.97[ASN][1000 genomes]
rs5753030	0.97[ASN][1000 genomes]
rs5763681	0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap]
rs5763695	0.84[CHB][hapmap]
rs5763701	0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap]
rs5763734	0.92[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs5763742	0.82[ASN][1000 genomes]
rs5763746	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5763748	0.82[ASN][1000 genomes]
rs5763749	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763750	0.85[ASN][1000 genomes]
rs5763758	0.94[ASN][1000 genomes]
rs5763759	0.87[ASN][1000 genomes]
rs5763763	0.94[ASN][1000 genomes]
rs5763766	0.94[ASN][1000 genomes]
rs5763769	0.94[ASN][1000 genomes]
rs5763774	0.94[ASN][1000 genomes]
rs5763782	0.94[ASN][1000 genomes]
rs5763787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763788	0.97[ASN][1000 genomes]
rs5763801	0.94[ASN][1000 genomes]
rs5763805	0.97[ASN][1000 genomes]
rs5763810	0.97[ASN][1000 genomes]
rs5763852	0.97[ASN][1000 genomes]
rs5763854	0.97[ASN][1000 genomes]
rs5763861	0.97[ASN][1000 genomes]
rs5763872	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs6006393	0.92[CHB][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006399	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs718773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7286304	0.83[ASN][1000 genomes]
rs7286681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7288576	0.83[ASN][1000 genomes]
rs739616	0.85[ASN][1000 genomes]
rs757026	0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs766011	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8142101	0.84[CHB][hapmap]
rs916807	0.84[CHB][hapmap]
rs975704	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5763825	ASCC2	cis	cerebellum	SCAN
rs5763825	DRG1	cis	cerebellum	SCAN
rs5763825	MTFP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30541000-30555200	Weak transcription	Osteobl	bone
2	chr22:30547200-30555400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:30547200-30555600	Weak transcription	Thymus	Thymus
4	chr22:30550200-30555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:30551600-30555600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30552000-30553200	Enhancers	Fetal Intestine Small	intestine
7	chr22:30552200-30552800	Enhancers	Fetal Intestine Large	intestine
8	chr22:30552200-30554600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:30552400-30553200	Enhancers	Fetal Kidney	kidney

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