Variant report

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10483141	1.00[CHB][hapmap]
rs10483148	1.00[CHB][hapmap]
rs12170637	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1297607	1.00[CHB][hapmap]
rs134488	1.00[CHB][hapmap]
rs134501	1.00[CHB][hapmap]
rs134503	1.00[CHB][hapmap]
rs134504	1.00[CHB][hapmap]
rs134506	1.00[CHB][hapmap]
rs134509	1.00[CHB][hapmap]
rs134510	1.00[CHB][hapmap]
rs134514	1.00[CHB][hapmap]
rs134520	1.00[CHB][hapmap]
rs134521	1.00[CHB][hapmap]
rs134524	1.00[CHB][hapmap]
rs134528	1.00[CHB][hapmap]
rs134547	1.00[CHB][hapmap]
rs135641	1.00[CHB][hapmap]
rs135642	1.00[CHB][hapmap]
rs135644	1.00[CHB][hapmap]
rs135645	1.00[CHB][hapmap]
rs135649	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16986254	1.00[CHB][hapmap]
rs16986257	1.00[CHB][hapmap]
rs16986266	1.00[CHB][hapmap]
rs16986398	1.00[CHB][hapmap]
rs2038287	1.00[CHB][hapmap]
rs2143420	1.00[CHB][hapmap]
rs28701638	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7285440	1.00[CHB][hapmap]
rs79104	1.00[CHB][hapmap]
rs79107	1.00[CHB][hapmap]
rs9625438	0.82[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28612200-28634800	Weak transcription	Dnd41	blood
2	chr22:28618400-28639600	Weak transcription	Ovary	ovary
3	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
4	chr22:28619400-28631000	Weak transcription	Brain Hippocampus Middle	brain
5	chr22:28620400-28639200	Weak transcription	Left Ventricle	heart
6	chr22:28625800-28630800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:28626400-28632000	Weak transcription	Aorta	Aorta
8	chr22:28627600-28630600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:28628000-28639400	Weak transcription	Fetal Heart	heart
10	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:28628600-28630800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28628600-28632800	Weak transcription	HSMMtube	muscle
13	chr22:28628600-28632800	Weak transcription	Osteobl	bone
14	chr22:28628600-28633000	Weak transcription	HSMM	muscle
15	chr22:28628600-28639000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:28628600-28640800	Weak transcription	NHLF	lung
18	chr22:28628800-28630600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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