Variant report

Variant	rs61244634
Chromosome Location	chr3:142440257-142440258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142437025..142440945-chr3:142442939..142444971,3	K562	blood:

Variant related genes	Relation type
ENSG00000144935	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1479135	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1479138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2199714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34502778	1.00[EUR][1000 genomes]
rs35582603	1.00[EUR][1000 genomes]
rs35978765	1.00[EUR][1000 genomes]
rs55820583	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55895932	1.00[EUR][1000 genomes]
rs56022646	1.00[EUR][1000 genomes]
rs56050554	1.00[EUR][1000 genomes]
rs56062708	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56921402	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57625476	1.00[EUR][1000 genomes]
rs58421597	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58980616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59456283	1.00[EUR][1000 genomes]
rs59936227	1.00[EUR][1000 genomes]
rs60399161	1.00[EUR][1000 genomes]
rs60403314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60701561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61300208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61326325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6440101	1.00[EUR][1000 genomes]
rs6765644	1.00[EUR][1000 genomes]
rs6770411	1.00[EUR][1000 genomes]
rs6777735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781412	1.00[EUR][1000 genomes]
rs6791858	1.00[EUR][1000 genomes]
rs6798670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988608	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988618	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990712	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992635	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992638	1.00[EUR][1000 genomes]
rs72992653	1.00[EUR][1000 genomes]
rs73002081	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003968	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003973	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73864409	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73864413	1.00[EUR][1000 genomes]
rs73864431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7613884	1.00[EUR][1000 genomes]
rs7615480	1.00[EUR][1000 genomes]
rs7620068	1.00[EUR][1000 genomes]
rs7620319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621810	1.00[EUR][1000 genomes]
rs7622266	1.00[EUR][1000 genomes]
rs7625306	1.00[EUR][1000 genomes]
rs7625764	1.00[EUR][1000 genomes]
rs7628677	1.00[EUR][1000 genomes]
rs7630817	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7653387	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv520533	chr3:142417070-142440299	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142389800-142442400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:142429400-142442400	Weak transcription	NH-A	brain
3	chr3:142429600-142442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:142431600-142442400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:142431800-142442600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:142434200-142442200	Weak transcription	A549	lung

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