Variant report

Variant	rs624687
Chromosome Location	chr6:121418781-121418782
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121412403..121414647-chr6:121418696..121420931,2	K562	blood:
2	chr6:121411153..121412968-chr6:121418070..121419760,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10457412	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12527842	0.81[EUR][1000 genomes]
rs12527994	0.81[EUR][1000 genomes]
rs12528443	0.81[EUR][1000 genomes]
rs1273706	0.81[EUR][1000 genomes]
rs1273720	0.81[EUR][1000 genomes]
rs1273724	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1273728	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1273731	0.81[EUR][1000 genomes]
rs1273738	0.81[EUR][1000 genomes]
rs1273742	0.81[EUR][1000 genomes]
rs1273743	0.81[EUR][1000 genomes]
rs1273746	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1290678	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1392863	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17083187	0.81[EUR][1000 genomes]
rs1846865	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1891646	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1995313	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2088832	0.83[AMR][1000 genomes]
rs218867	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs391331	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3956400	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4027128	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs407586	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4412234	0.90[AMR][1000 genomes]
rs443149	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4498397	0.86[AMR][1000 genomes]
rs450762	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4601176	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4946535	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59805136	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6916050	0.90[AMR][1000 genomes]
rs6919890	0.82[AMR][1000 genomes]
rs6921681	0.81[EUR][1000 genomes]
rs6926502	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6928060	0.82[AMR][1000 genomes]
rs6931402	0.81[EUR][1000 genomes]
rs6941235	0.84[AMR][1000 genomes]
rs73536481	0.81[EUR][1000 genomes]
rs73536482	0.81[EUR][1000 genomes]
rs7450632	0.90[AMR][1000 genomes]
rs7751291	0.81[EUR][1000 genomes]
rs7764420	0.88[ASN][1000 genomes]
rs7768058	0.90[AMR][1000 genomes]
rs7771881	0.82[EUR][1000 genomes]
rs785395	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884045	0.81[EUR][1000 genomes]
rs9320791	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9372645	0.85[AMR][1000 genomes]
rs9375004	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9375013	0.86[AMR][1000 genomes]
rs9387920	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9387924	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9387929	0.90[AMR][1000 genomes]
rs9387939	0.82[AMR][1000 genomes]
rs9398622	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9401368	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9401372	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9401378	0.85[AMR][1000 genomes]
rs9401380	0.90[AMR][1000 genomes]
rs9401382	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9482119	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs953616	0.81[EUR][1000 genomes]
rs976611	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[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:11 , 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	chr6:121418400-121422600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:121418600-121446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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