Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83623838..83626141-chr15:83629678..83632386,2	MCF-7	breast:
2	chr15:83614588..83616160-chr15:83629650..83631536,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17295457	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28408839	1.00[ASN][1000 genomes]
rs28429062	1.00[ASN][1000 genomes]
rs28454771	1.00[ASN][1000 genomes]
rs28463621	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28479338	1.00[ASN][1000 genomes]
rs28509292	1.00[ASN][1000 genomes]
rs28510490	1.00[ASN][1000 genomes]
rs28540116	1.00[ASN][1000 genomes]
rs28569354	1.00[ASN][1000 genomes]
rs28570610	1.00[ASN][1000 genomes]
rs28662361	1.00[ASN][1000 genomes]
rs28707195	1.00[ASN][1000 genomes]
rs28711332	1.00[ASN][1000 genomes]
rs28755408	1.00[ASN][1000 genomes]
rs28819476	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836869	1.00[ASN][1000 genomes]
rs67634629	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169539	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170046	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755930	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755935	1.00[ASN][1000 genomes]
rs72755947	1.00[ASN][1000 genomes]
rs72755962	1.00[ASN][1000 genomes]
rs8038619	1.00[ASN][1000 genomes]
rs9919979	1.00[ASN][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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10220725	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83622000-83635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:83622200-83649400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:83622800-83632000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:83623000-83632000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:83628200-83632400	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:83629800-83638800	Weak transcription	Psoas Muscle	Psoas
7	chr15:83630000-83631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:83630200-83631800	Weak transcription	Pancreas	Pancrea
9	chr15:83630400-83632200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:83630400-83632200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:83631200-83633400	Enhancers	Skeletal Muscle Female	skeletal muscle

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