Variant report

Variant	rs73069718
Chromosome Location	chr1:196499667-196499668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196459854..196461920-chr1:196498611..196500836,2	K562	blood:
2	chr1:196495137..196498196-chr1:196498835..196501233,3	K562	blood:
3	chr1:196499588..196502462-chr1:196620614..196624645,3	K562	blood:

Variant related genes	Relation type
ENSG00000000971	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10733085	1.00[EUR][1000 genomes]
rs10754186	1.00[EUR][1000 genomes]
rs11799956	1.00[EUR][1000 genomes]
rs11810886	1.00[EUR][1000 genomes]
rs1339953	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34860966	1.00[EUR][1000 genomes]
rs57259842	1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs57375190	1.00[EUR][1000 genomes]
rs58029172	1.00[EUR][1000 genomes]
rs59464070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59564010	1.00[EUR][1000 genomes]
rs60858311	1.00[EUR][1000 genomes]
rs61005987	1.00[EUR][1000 genomes]
rs6674960	1.00[EUR][1000 genomes]
rs6675088	1.00[EUR][1000 genomes]
rs6676437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676634	1.00[EUR][1000 genomes]
rs6682755	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684014	1.00[EUR][1000 genomes]
rs6689826	1.00[EUR][1000 genomes]
rs6695890	1.00[EUR][1000 genomes]
rs6701301	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067641	1.00[EUR][1000 genomes]
rs73067647	1.00[EUR][1000 genomes]
rs73067650	1.00[EUR][1000 genomes]
rs73067655	1.00[EUR][1000 genomes]
rs73067657	1.00[EUR][1000 genomes]
rs73067662	1.00[EUR][1000 genomes]
rs73067663	1.00[EUR][1000 genomes]
rs73067664	1.00[EUR][1000 genomes]
rs73067676	1.00[EUR][1000 genomes]
rs73067680	1.00[EUR][1000 genomes]
rs73067681	1.00[EUR][1000 genomes]
rs73067684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067688	1.00[EUR][1000 genomes]
rs73067689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069711	1.00[EUR][1000 genomes]
rs73069713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069736	1.00[EUR][1000 genomes]
rs73069738	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069750	1.00[EUR][1000 genomes]
rs73069787	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069791	1.00[EUR][1000 genomes]
rs73069796	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071737	1.00[EUR][1000 genomes]
rs73071798	1.00[EUR][1000 genomes]
rs73071802	1.00[EUR][1000 genomes]
rs73073535	1.00[EUR][1000 genomes]
rs7523390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526622	1.00[EUR][1000 genomes]
rs7531235	1.00[EUR][1000 genomes]
rs7535653	1.00[EUR][1000 genomes]
rs7537967	1.00[EUR][1000 genomes]
rs9659561	1.00[EUR][1000 genomes]
rs9662866	1.00[EUR][1000 genomes]
rs9728591	0.81[AMR][1000 genomes];1.00[EUR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196480800-196504800	Weak transcription	Liver	Liver
2	chr1:196492200-196504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:196492400-196504200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:196492400-196504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:196493200-196502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:196493600-196504000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:196495000-196500800	Weak transcription	Fetal Lung	lung
8	chr1:196497400-196501000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:196497400-196504800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:196498000-196502000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:196498000-196505000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:196499200-196501200	Weak transcription	NHDF-Ad	bronchial

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