Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173171784..173174881-chr2:173175432..173178185,3	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10803873	0.86[EUR][1000 genomes]
rs10930546	0.86[EUR][1000 genomes]
rs11682072	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692999	0.86[EUR][1000 genomes]
rs3934990	0.86[EUR][1000 genomes]
rs3935436	0.86[EUR][1000 genomes]
rs3935437	0.86[EUR][1000 genomes]
rs4522573	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4588155	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972483	0.86[EUR][1000 genomes]
rs4972782	0.86[EUR][1000 genomes]
rs56030771	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206805	0.86[EUR][1000 genomes]
rs62167402	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62167427	0.86[EUR][1000 genomes]
rs6433348	0.86[EUR][1000 genomes]
rs6433349	0.86[EUR][1000 genomes]
rs6720311	0.89[ASN][1000 genomes]
rs6735215	0.85[EUR][1000 genomes]
rs6735271	0.85[EUR][1000 genomes]
rs6743235	0.86[EUR][1000 genomes]
rs6758468	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560146	0.86[EUR][1000 genomes]
rs7569240	0.86[EUR][1000 genomes]
rs7579339	0.86[EUR][1000 genomes]
rs7595714	0.85[EUR][1000 genomes]
rs7596005	0.86[EUR][1000 genomes]
rs7605564	0.86[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	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4972787	ATP5G3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173170400-173177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:173170600-173178000	Weak transcription	Spleen	Spleen
3	chr2:173171000-173176400	Weak transcription	Stomach Mucosa	stomach
4	chr2:173173000-173176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173173000-173178000	Weak transcription	Lung	lung
6	chr2:173173000-173178200	Weak transcription	Fetal Thymus	thymus
7	chr2:173173000-173181600	Weak transcription	Right Atrium	heart
8	chr2:173173200-173176400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:173173600-173176000	Weak transcription	Left Ventricle	heart
10	chr2:173173600-173176400	Weak transcription	Pancreas	Pancrea
11	chr2:173173600-173178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:173173800-173176200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:173173800-173176400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:173173800-173176400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:173173800-173178000	Weak transcription	Right Ventricle	heart
16	chr2:173174000-173175800	Weak transcription	HUVEC	blood vessel
17	chr2:173174000-173176400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173174800-173176000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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