Variant report

Variant	rs73250250
Chromosome Location	chr8:67532983-67532984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67527783..67530174-chr8:67532472..67534471,2	MCF-7	breast:
2	chr8:67532730..67535204-chr8:67600896..67603323,2	K562	blood:
3	chr8:67525341..67527681-chr8:67530457..67533432,2	K562	blood:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10504393	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986831	1.00[EUR][1000 genomes]
rs11987253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990322	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993306	1.00[ASN][1000 genomes]
rs11993354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995031	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995291	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997554	1.00[EUR][1000 genomes]
rs11998194	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114868	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16932983	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933026	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16933032	1.00[EUR][1000 genomes]
rs2357998	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2358000	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35078037	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35353562	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3824258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56682762	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	1.00[EUR][1000 genomes]
rs56911449	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57858031	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	1.00[EUR][1000 genomes]
rs60165103	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986439	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988670	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998505	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6998718	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003548	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008740	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes]
rs73253968	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261704	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844944	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67526800-67543400	Weak transcription	HSMM	muscle
3	chr8:67526800-67546000	Weak transcription	NHDF-Ad	bronchial
4	chr8:67526800-67546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:67527000-67535400	Weak transcription	Left Ventricle	heart
6	chr8:67527000-67545200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:67527000-67554000	Weak transcription	NHEK	skin
8	chr8:67532600-67533200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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