Variant report

Variant	rs67723963
Chromosome Location	chr12:50258542-50258543
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50257354..50258880-chr12:50284102..50286835,2	K562	blood:
2	chr12:50258046..50259934-chr12:50399287..50401649,2	MCF-7	breast:
3	chr12:50170376..50172143-chr12:50258394..50260601,2	K562	blood:
4	chr12:50257760..50259370-chr12:50261533..50263034,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1044677	0.91[EUR][1000 genomes]
rs10747567	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747568	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783321	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10783323	0.96[EUR][1000 genomes]
rs10783326	0.97[EUR][1000 genomes]
rs10875984	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875986	0.85[EUR][1000 genomes]
rs10875987	0.81[EUR][1000 genomes]
rs1563168	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869504	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965873	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1975732	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271687	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271688	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741557	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741558	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4898512	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4898513	0.93[EUR][1000 genomes]
rs4898536	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4898537	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4898539	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs706797	0.80[EUR][1000 genomes]
rs7133995	0.82[ASN][1000 genomes]
rs7137210	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7295882	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302465	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7306374	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307673	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7310206	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954572	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7967564	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969178	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs836967	0.81[EUR][1000 genomes]
rs836969	0.81[EUR][1000 genomes]
rs897057	0.81[EUR][1000 genomes]
rs9805137	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv975486	chr12:50247649-50259548	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237600-50261200	Weak transcription	Right Atrium	heart
2	chr12:50257200-50258600	Enhancers	Fetal Lung	lung
3	chr12:50257400-50259000	Enhancers	Fetal Muscle Leg	muscle
4	chr12:50257800-50258600	Enhancers	Esophagus	oesophagus
5	chr12:50257800-50258600	Enhancers	HSMM	muscle
6	chr12:50257800-50258800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:50257800-50259800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr12:50258000-50258600	Enhancers	Brain Hippocampus Middle	brain
9	chr12:50258000-50258600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:50258000-50261200	Weak transcription	Fetal Intestine Large	intestine
11	chr12:50258200-50258600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:50258200-50258600	Flanking Active TSS	HSMMtube	muscle
13	chr12:50258200-50258800	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr12:50258200-50260000	Enhancers	Fetal Brain Male	brain
15	chr12:50258400-50258600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:50258400-50258600	Enhancers	Fetal Heart	heart
17	chr12:50258400-50258600	Enhancers	Hela-S3	cervix
18	chr12:50258400-50260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:50258400-50260800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:50258400-50261000	Weak transcription	Rectal Mucosa Donor 31	rectum

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