Variant report

Variant	rs67815046
Chromosome Location	chr8:125280638-125280639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125273484..125276342-chr8:125277791..125281041,4	K562	blood:
2	chr8:125278138..125281039-chr8:125391343..125392943,2	MCF-7	breast:
3	chr8:125279696..125281891-chr8:125285481..125287551,2	K562	blood:
4	chr8:125280139..125282086-chr8:125282915..125284944,2	K562	blood:
5	chr8:125279807..125281757-chr8:125384841..125386364,2	MCF-7	breast:
6	chr8:125276177..125277998-chr8:125279360..125280920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087062	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10087137	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10087222	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10087374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10091808	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10092616	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13439237	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13439439	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17295226	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17295548	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17360746	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17360788	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4374970	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4504618	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4593526	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871476	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871477	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871478	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871480	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871481	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871482	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55784871	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55945711	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56068026	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56218959	0.85[ASN][1000 genomes]
rs56383080	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60167901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60995425	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66467223	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66961607	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67153514	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67712436	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68047305	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6983392	0.82[ASN][1000 genomes]
rs6984141	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6984458	0.96[EUR][1000 genomes]
rs6984642	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6984921	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986310	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6988141	0.82[ASN][1000 genomes]
rs7003238	0.82[ASN][1000 genomes]
rs7003974	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7011052	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011213	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011528	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72719397	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73345172	0.82[ASN][1000 genomes]
rs73345176	0.82[ASN][1000 genomes]
rs7842882	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297693	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643192	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9969472	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969473	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969475	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969479	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969480	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969624	0.95[EUR][1000 genomes];0.97[ASN][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
3	chr8:125275400-125281200	Weak transcription	Left Ventricle	heart
4	chr8:125275400-125281200	Weak transcription	Right Atrium	heart
5	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125275800-125281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125275800-125281200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:125275800-125281200	Weak transcription	Psoas Muscle	Psoas
10	chr8:125276000-125281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:125276800-125281600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:125279200-125282200	Enhancers	A549	lung
13	chr8:125279400-125281200	Enhancers	Hela-S3	cervix
14	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
15	chr8:125279600-125281600	Weak transcription	K562	blood
16	chr8:125279600-125282400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125279600-125282800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125280000-125282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:125280400-125281200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:125280400-125281400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
22	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:125280600-125282800	Weak transcription	HUVEC	blood vessel

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