Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:175033728..175036275-chr1:175037285..175039259,2	MCF-7	breast:
2	chr1:175028783..175030971-chr1:175038361..175041126,2	K562	blood:
3	chr1:175037331..175039889-chr1:175047402..175050144,2	K562	blood:
4	chr1:175037717..175040130-chr1:175044107..175046974,3	K562	blood:

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

rs_ID	r²[population]
rs10798330	0.87[GIH][hapmap]
rs11577778	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11578942	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578961	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583313	0.82[EUR][1000 genomes]
rs12059398	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12065394	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12068402	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087791	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17302688	0.90[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17374668	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269647	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808408	0.82[EUR][1000 genomes]
rs56226643	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59822966	0.82[EUR][1000 genomes]
rs61541139	0.82[EUR][1000 genomes]
rs6665471	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695255	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703193	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650986	0.82[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	nsv1011472	chr1:175013165-175042885	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16847779	DNM3	cis	cerebellum	SCAN
rs16847779	SNORD44	cis	cerebellum	SCAN
rs16847779	KLHL20	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175036800-175041000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:175037200-175038600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:175037200-175040200	Weak transcription	Fetal Stomach	stomach
4	chr1:175037200-175040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:175037200-175041000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:175037200-175041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:175037200-175041000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:175037200-175041400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:175037400-175039800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:175038000-175041200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:175038200-175041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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