Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171832502..171835354-chr1:171836548..171838388,2	K562	blood:

Variant related genes	Relation type
ENSG00000233540	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10465518	1.00[EUR][1000 genomes]
rs10910941	1.00[AMR][1000 genomes]
rs12059659	1.00[EUR][1000 genomes]
rs12059900	1.00[AMR][1000 genomes]
rs12060632	1.00[AMR][1000 genomes]
rs12062104	1.00[AMR][1000 genomes]
rs12067192	1.00[AMR][1000 genomes]
rs12070381	1.00[AMR][1000 genomes]
rs12071915	1.00[AMR][1000 genomes]
rs12072055	1.00[AMR][1000 genomes]
rs12075392	1.00[AMR][1000 genomes]
rs12083356	1.00[AMR][1000 genomes]
rs12089487	1.00[AMR][1000 genomes]
rs12093037	1.00[AMR][1000 genomes]
rs12093751	1.00[AMR][1000 genomes]
rs12097783	1.00[AMR][1000 genomes]
rs16843624	1.00[AMR][1000 genomes]
rs16843652	1.00[EUR][1000 genomes]
rs16843714	1.00[EUR][1000 genomes]
rs16843740	1.00[EUR][1000 genomes]
rs16843770	1.00[EUR][1000 genomes]
rs16843814	1.00[EUR][1000 genomes]
rs56813784	1.00[EUR][1000 genomes]
rs56888227	1.00[EUR][1000 genomes]
rs58009573	1.00[EUR][1000 genomes]
rs58346902	1.00[EUR][1000 genomes]
rs59671783	1.00[EUR][1000 genomes]
rs60893096	1.00[EUR][1000 genomes]
rs61510803	1.00[EUR][1000 genomes]
rs6663676	1.00[AMR][1000 genomes]
rs6668588	1.00[AMR][1000 genomes]
rs7539162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9724787	1.00[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171828400-171850800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171833200-171838200	Weak transcription	NHEK	skin
3	chr1:171833800-171838200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:171833800-171838600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:171836400-171838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:171837200-171838600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:171837200-171838600	Enhancers	HMEC	breast
8	chr1:171837200-171838800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:171837200-171838800	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:171837200-171839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:171837200-171839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:171837200-171840000	Enhancers	Brain Hippocampus Middle	brain
13	chr1:171837200-171841800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:171837400-171838600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:171837800-171838200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:171837800-171838200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:171837800-171838400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:171837800-171838800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:171838000-171839000	Enhancers	Cortex derived primary cultured neurospheres	brain

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