Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11526503	1.00[EUR][1000 genomes]
rs12031030	1.00[EUR][1000 genomes]
rs12032699	1.00[EUR][1000 genomes]
rs12036604	1.00[EUR][1000 genomes]
rs12038006	1.00[EUR][1000 genomes]
rs1330369	1.00[EUR][1000 genomes]
rs16862963	1.00[EUR][1000 genomes]
rs16862985	1.00[EUR][1000 genomes]
rs56694179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56919297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179539	1.00[EUR][1000 genomes]
rs61631513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686398	1.00[EUR][1000 genomes]
rs73023503	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023591	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122307	1.00[EUR][1000 genomes]
rs74122310	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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv3454	chr1:170134880-170149447	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170132400-170140200	Weak transcription	Right Ventricle	heart
2	chr1:170132600-170137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:170132600-170137200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:170132600-170137200	Weak transcription	Osteobl	bone
5	chr1:170132600-170137600	Weak transcription	HSMMtube	muscle
6	chr1:170132800-170140600	Weak transcription	Fetal Heart	heart
7	chr1:170136600-170137000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:170136600-170137000	Enhancers	Fetal Stomach	stomach
9	chr1:170136600-170137200	Enhancers	Dnd41	blood
10	chr1:170136600-170137400	Enhancers	Ovary	ovary
11	chr1:170136600-170137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:170136800-170137000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:170136800-170137000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:170136800-170137000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:170136800-170137000	Enhancers	NHDF-Ad	bronchial
16	chr1:170136800-170137200	Enhancers	Right Atrium	heart
17	chr1:170136800-170137600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:170136800-170137800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:170136800-170138000	Enhancers	Fetal Kidney	kidney
20	chr1:170136800-170138000	Enhancers	HSMM	muscle

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