Variant report

Variant	rs73330303
Chromosome Location	chr8:125282940-125282941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:125282882-125283032	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr8:125281667-125285056	A549	lung:	n/a	n/a
3	GATA3	chr8:125281689-125282956	A549	lung:	n/a	n/a
4	SMARCC1	chr8:125282669-125285078	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:125281747-125282976	Hela-S3	cervix:	n/a	chr8:125282139-125282150
6	SP1	chr8:125281784-125283126	A549	lung:	n/a	n/a
7	SP1	chr8:125281856-125283063	A549	lung:	n/a	n/a
8	EP300	chr8:125281511-125283066	A549	lung:	n/a	n/a
9	MAX	chr8:125282817-125285260	A549	lung:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905

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	chr8:125281056..125283000-chr8:125291511..125293598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	TF binding region

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

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

rs_ID	r²[population]
rs10087001	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10089870	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10099103	0.83[EUR][1000 genomes]
rs13439237	0.92[ASN][1000 genomes]
rs13439439	0.92[ASN][1000 genomes]
rs13439443	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17360690	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17360711	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17361004	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28371029	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871483	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55764180	0.81[EUR][1000 genomes]
rs55932688	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55945711	0.82[ASN][1000 genomes]
rs56218959	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56234976	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245645	0.83[EUR][1000 genomes]
rs60167901	0.82[ASN][1000 genomes]
rs66961607	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs67153514	0.84[ASN][1000 genomes]
rs67712436	0.84[ASN][1000 genomes]
rs68047305	0.84[ASN][1000 genomes]
rs6983392	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6986310	0.80[ASN][1000 genomes]
rs6988141	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7003238	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72719397	0.84[ASN][1000 genomes]
rs73330304	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345110	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345113	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345158	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73345172	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73345176	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73345185	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[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
rs73330303	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
2	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
3	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
4	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125281000-125283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125281200-125284400	Enhancers	Fetal Intestine Large	intestine
7	chr8:125281200-125284600	Enhancers	Psoas Muscle	Psoas
8	chr8:125281600-125283600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125281600-125284000	Enhancers	K562	blood
10	chr8:125281600-125284200	Weak transcription	Right Atrium	heart
11	chr8:125281600-125285000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:125281800-125283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125282000-125284000	Weak transcription	Fetal Heart	heart
14	chr8:125282000-125284200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:125282200-125283600	Flanking Active TSS	A549	lung
16	chr8:125282200-125283600	Enhancers	Osteobl	bone
17	chr8:125282200-125284000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:125282200-125284400	Enhancers	Fetal Intestine Small	intestine
19	chr8:125282200-125285600	Enhancers	NHDF-Ad	bronchial
20	chr8:125282400-125284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125282400-125284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:125282600-125283400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:125282600-125284600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:125282800-125283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:125282800-125283000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:125282800-125283400	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:125282800-125283400	Enhancers	NH-A	brain
28	chr8:125282800-125284400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:125282800-125284400	Enhancers	Left Ventricle	heart
30	chr8:125282800-125284400	Enhancers	HSMMtube	muscle
31	chr8:125282800-125284800	Enhancers	HUVEC	blood vessel
32	chr8:125282800-125285400	Flanking Active TSS	Hela-S3	cervix
33	chr8:125282800-125285400	Enhancers	NHLF	lung
34	chr8:125282800-125285600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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