Variant report

Variant	rs56234976
Chromosome Location	chr8:125281365-125281366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125274766..125276637-chr8:125281262..125283690,2	MCF-7	breast:
2	chr8:125277499..125279728-chr8:125280833..125283202,2	MCF-7	breast:
3	chr8:125279696..125281891-chr8:125285481..125287551,2	K562	blood:
4	chr8:125280139..125282086-chr8:125282915..125284944,2	K562	blood:
5	chr8:125280886..125282732-chr8:125291409..125294127,2	MCF-7	breast:
6	chr8:125279807..125281757-chr8:125384841..125386364,2	MCF-7	breast:
7	chr8:125281056..125283000-chr8:125291511..125293598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087001	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10089870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10099103	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13439237	0.92[ASN][1000 genomes]
rs13439439	0.92[ASN][1000 genomes]
rs13439443	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17360690	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17360711	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17361004	0.91[EUR][1000 genomes]
rs28371029	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871483	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55764180	0.81[EUR][1000 genomes]
rs55932688	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55945711	0.82[ASN][1000 genomes]
rs56218959	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56245645	0.82[EUR][1000 genomes]
rs60167901	0.82[ASN][1000 genomes]
rs66961607	0.85[ASN][1000 genomes]
rs67153514	0.84[ASN][1000 genomes]
rs67712436	0.84[ASN][1000 genomes]
rs68047305	0.84[ASN][1000 genomes]
rs6983392	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6986310	0.80[ASN][1000 genomes]
rs6988141	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7003238	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72719397	0.84[ASN][1000 genomes]
rs73330303	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73330304	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345110	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345113	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345158	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73345172	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73345176	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73345185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842882	0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56234976	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:29 , 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	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:125276800-125281600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:125279200-125282200	Enhancers	A549	lung
7	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
8	chr8:125279600-125281600	Weak transcription	K562	blood
9	chr8:125279600-125282400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:125279600-125282800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:125280000-125282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:125280400-125281400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
14	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:125280600-125282800	Weak transcription	HUVEC	blood vessel
16	chr8:125281000-125283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:125281200-125281400	Enhancers	Primary B cells from cord blood	blood
18	chr8:125281200-125281400	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:125281200-125281400	Enhancers	Right Atrium	heart
20	chr8:125281200-125281600	Enhancers	Fetal Muscle Leg	muscle
21	chr8:125281200-125281600	Enhancers	Left Ventricle	heart
22	chr8:125281200-125281600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:125281200-125281600	Flanking Active TSS	Hela-S3	cervix
24	chr8:125281200-125281600	Enhancers	HSMMtube	muscle
25	chr8:125281200-125281800	Enhancers	Fetal Intestine Small	intestine
26	chr8:125281200-125282000	Enhancers	Fetal Heart	heart
27	chr8:125281200-125282200	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:125281200-125284400	Enhancers	Fetal Intestine Large	intestine
29	chr8:125281200-125284600	Enhancers	Psoas Muscle	Psoas

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