Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:173446238..173448348-chr1:173471138..173472739,2	MCF-7	breast:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173461354..173463510-chr1:173469869..173472477,2	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

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

rs_ID	r²[population]
rs10912627	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912640	1.00[EUR][1000 genomes]
rs12060076	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060658	0.91[AMR][1000 genomes]
rs12077267	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080868	1.00[EUR][1000 genomes]
rs12081730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085144	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12091134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1461015	1.00[EUR][1000 genomes]
rs16846096	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846220	1.00[EUR][1000 genomes]
rs2901746	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664925	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129110	1.00[EUR][1000 genomes]
rs7529099	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551131	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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173458600-173475600	Weak transcription	Fetal Kidney	kidney
3	chr1:173458600-173476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173459400-173474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:173459400-173475400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:173466400-173472400	Weak transcription	Adipose Nuclei	Adipose
7	chr1:173466400-173472400	Weak transcription	K562	blood
8	chr1:173466400-173475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:173469400-173472600	Weak transcription	HSMMtube	muscle
10	chr1:173471000-173471800	Enhancers	Stomach Mucosa	stomach
11	chr1:173471000-173474200	Enhancers	Liver	Liver

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