Variant report

Variant	rs1416977
Chromosome Location	chr1:193275821-193275822
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	chr1:193253060..193255508-chr1:193274779..193276360,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10732293	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10737623	0.81[ASN][1000 genomes]
rs10754055	0.81[ASN][1000 genomes]
rs10801187	0.80[EUR][1000 genomes]
rs10801188	0.81[EUR][1000 genomes]
rs10801189	0.80[EUR][1000 genomes]
rs10801190	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10801191	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10801192	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10801194	0.98[ASN][1000 genomes]
rs10921323	0.80[EUR][1000 genomes]
rs10921326	0.80[EUR][1000 genomes]
rs10921328	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10921330	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10921334	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12064521	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12078145	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12124282	0.93[EUR][1000 genomes]
rs1221502	0.99[ASN][1000 genomes]
rs12410213	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1408830	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1536098	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1536099	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1578242	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1578243	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1616234	0.98[ASN][1000 genomes]
rs1632444	0.81[ASN][1000 genomes]
rs1770000	0.94[EUR][1000 genomes]
rs1972344	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1972345	0.97[ASN][1000 genomes]
rs2251699	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2254646	0.81[ASN][1000 genomes]
rs2370264	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477549	0.99[ASN][1000 genomes]
rs2486843	0.94[EUR][1000 genomes]
rs3738244	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4657747	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs474328	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs503265	0.81[ASN][1000 genomes]
rs523402	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531327	0.93[EUR][1000 genomes]
rs543788	0.81[ASN][1000 genomes]
rs560900	0.97[ASN][1000 genomes]
rs569656	1.00[ASN][1000 genomes]
rs571029	0.81[ASN][1000 genomes]
rs578639	0.99[ASN][1000 genomes]
rs6428155	0.80[EUR][1000 genomes]
rs6428156	0.81[EUR][1000 genomes]
rs6428157	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6662104	0.88[EUR][1000 genomes]
rs6663162	0.81[EUR][1000 genomes]
rs6671476	0.81[ASN][1000 genomes]
rs6675827	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6689006	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6697079	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6702762	0.88[EUR][1000 genomes]
rs693519	1.00[ASN][1000 genomes]
rs7515024	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7534504	0.83[EUR][1000 genomes]
rs7543029	0.88[EUR][1000 genomes]
rs7546869	0.80[EUR][1000 genomes]
rs7554925	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs817138	1.00[ASN][1000 genomes]
rs817140	0.98[ASN][1000 genomes]
rs817142	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817143	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs843844	1.00[ASN][1000 genomes]
rs9887974	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193255200-193280400	Weak transcription	HSMM	muscle

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