Variant report

Variant	rs1100140
Chromosome Location	chr7:12489808-12489809
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	chr7:12480338..12484247-chr7:12487058..12490542,4	K562	blood:
2	chr7:12488598..12490554-chr7:12506071..12508415,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1100131	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1100132	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1100139	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100141	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100144	0.88[EUR][1000 genomes]
rs1659967	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17166055	0.92[ASN][1000 genomes]
rs702473	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73052774	0.87[ASN][1000 genomes]
rs847904	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847906	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847911	0.92[ASN][1000 genomes]
rs847912	0.92[ASN][1000 genomes]
rs847913	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847925	0.92[ASN][1000 genomes]
rs847927	0.88[ASN][1000 genomes]
rs847928	0.92[ASN][1000 genomes]
rs847935	0.92[ASN][1000 genomes]
rs847946	0.82[EUR][1000 genomes]
rs847960	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847962	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847969	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847970	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847971	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847972	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847974	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847975	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847976	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847978	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847981	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847984	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847985	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847986	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847987	0.89[ASN][1000 genomes]
rs847988	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847990	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847991	0.89[ASN][1000 genomes]
rs847992	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847993	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847994	0.94[ASN][1000 genomes]
rs847996	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847997	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847998	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848000	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848002	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848005	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848007	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848010	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs848014	0.87[ASN][1000 genomes]
rs848017	0.87[ASN][1000 genomes]
rs848018	0.87[ASN][1000 genomes]
rs848019	0.87[ASN][1000 genomes]
rs848024	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848030	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs864039	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12477000-12490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12489200-12490600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:12489400-12490800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:12489800-12490200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:12489800-12490800	Enhancers	H1 Cell Line	embryonic stem cell

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