Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113931413..113934356-chr1:113971943..113975080,3	MCF-7	breast:
2	chr1:113969097..113970907-chr1:113971568..113973801,2	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11102629	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11102646	0.89[EUR][1000 genomes]
rs11578447	0.89[EUR][1000 genomes]
rs12117465	0.96[EUR][1000 genomes]
rs12117919	0.93[EUR][1000 genomes]
rs12119281	1.00[EUR][1000 genomes]
rs12125741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127683	1.00[EUR][1000 genomes]
rs12130729	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131115	1.00[EUR][1000 genomes]
rs12134802	0.89[EUR][1000 genomes]
rs12135714	0.89[EUR][1000 genomes]
rs12144505	0.96[EUR][1000 genomes]
rs12145834	1.00[EUR][1000 genomes]
rs17448063	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461007	1.00[EUR][1000 genomes]
rs17461231	1.00[EUR][1000 genomes]
rs17507884	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1936931	1.00[EUR][1000 genomes]
rs2359415	1.00[EUR][1000 genomes]
rs55710846	0.98[EUR][1000 genomes]
rs6537788	0.96[EUR][1000 genomes]
rs7533429	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113964400-113974200	Weak transcription	A549	lung
3	chr1:113966800-113986600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:113967400-113977400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:113970000-113986600	Weak transcription	Esophagus	oesophagus
6	chr1:113970200-113973600	Weak transcription	Gastric	stomach
7	chr1:113971800-113973400	Enhancers	Stomach Mucosa	stomach
8	chr1:113972000-113973000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr1:113972000-113973200	Enhancers	HepG2	liver
10	chr1:113972000-113973800	Enhancers	Liver	Liver
11	chr1:113972200-113976800	Weak transcription	Right Atrium	heart
12	chr1:113972400-113973000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:113972400-113973800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:113972600-113973600	Weak transcription	Pancreas	Pancrea
15	chr1:113972600-113976800	Weak transcription	Left Ventricle	heart
16	chr1:113972600-113980600	Weak transcription	Psoas Muscle	Psoas

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