Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:169452546..169456212-chr1:169513561..169516208,4	K562	blood:
2	chr1:169510436..169512418-chr1:169514269..169516717,2	MCF-7	breast:
3	chr1:169449555..169458933-chr1:169508181..169519645,22	MCF-7	breast:
4	chr1:169453402..169457978-chr1:169510259..169517954,11	MCF-7	breast:
5	chr1:169430787..169432465-chr1:169513559..169515145,2	MCF-7	breast:
6	chr1:169509458..169510965-chr1:169512972..169515829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000213062	Chromatin interaction

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

rs_ID	r²[population]
rs10158595	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10800456	0.82[EUR][1000 genomes]
rs10919186	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10919191	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12121164	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12143223	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13306344	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13306345	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1894694	0.91[EUR][1000 genomes]
rs1894695	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1894696	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2298909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420375	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2420376	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2420377	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3766110	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3766111	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3766112	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3766113	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6672595	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs929130	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9332595	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9332599	0.83[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169496000-169515200	Strong transcription	Liver	Liver
2	chr1:169498400-169524000	Weak transcription	Placenta	Placenta
3	chr1:169499000-169519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:169500200-169526800	Weak transcription	Left Ventricle	heart
5	chr1:169504000-169515000	Strong transcription	HepG2	liver
6	chr1:169505800-169534800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
8	chr1:169507000-169530800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:169509600-169515600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:169510200-169515800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:169510800-169515600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:169511000-169520000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:169513400-169515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:169513600-169525800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:169514000-169515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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