Variant report

Variant	rs450762
Chromosome Location	chr6:121424445-121424446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10457412	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1273724	0.86[EUR][1000 genomes]
rs1273728	0.86[EUR][1000 genomes]
rs1273746	0.86[EUR][1000 genomes]
rs1290678	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1392863	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1846865	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1891646	0.83[AMR][1000 genomes]
rs1995313	0.84[AMR][1000 genomes]
rs218867	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs391331	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3956400	0.82[AMR][1000 genomes]
rs407586	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4412234	0.84[AMR][1000 genomes]
rs443149	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601176	0.81[EUR][1000 genomes]
rs4946535	0.84[EUR][1000 genomes]
rs59805136	0.86[EUR][1000 genomes]
rs624687	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6916050	0.84[AMR][1000 genomes]
rs6926502	0.83[AMR][1000 genomes]
rs7450632	0.84[AMR][1000 genomes]
rs7764420	0.82[ASN][1000 genomes]
rs7768058	0.84[AMR][1000 genomes]
rs785395	0.86[EUR][1000 genomes]
rs9320791	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375004	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9387920	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9387924	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9387929	0.84[AMR][1000 genomes]
rs9398622	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9401368	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401372	0.80[ASN][1000 genomes]
rs9401380	0.84[AMR][1000 genomes]
rs9401382	0.82[AMR][1000 genomes]
rs9482119	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs976611	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv886592	chr6:121260089-121425387	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1830193	chr6:121392847-121425387	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv1812259	chr6:121404112-121451095	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121390800-121444000	Weak transcription	Ovary	ovary
2	chr6:121403600-121443400	Weak transcription	Left Ventricle	heart
3	chr6:121405800-121432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:121411800-121443000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:121412600-121426200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:121415400-121442200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:121418000-121442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:121418200-121436000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:121418200-121443800	Weak transcription	Dnd41	blood
10	chr6:121418600-121446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:121418800-121434400	Weak transcription	Fetal Intestine Large	intestine
12	chr6:121419800-121446200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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