Variant report

Variant	rs6717130
Chromosome Location	chr2:151199085-151199086
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10497055	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11887785	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903519	1.00[ASN][1000 genomes]
rs16828091	1.00[ASN][1000 genomes]
rs16828095	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16828099	1.00[ASN][1000 genomes]
rs16828101	1.00[ASN][1000 genomes]
rs16828160	1.00[ASN][1000 genomes]
rs17350215	0.90[EUR][1000 genomes]
rs17350243	0.90[EUR][1000 genomes]
rs17434648	0.93[EUR][1000 genomes]
rs17434723	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17434736	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2119752	1.00[ASN][1000 genomes]
rs66695478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859536	1.00[EUR][1000 genomes]
rs72859540	1.00[EUR][1000 genomes]
rs72859568	1.00[EUR][1000 genomes]
rs72859573	1.00[EUR][1000 genomes]
rs72859575	1.00[EUR][1000 genomes]
rs72859588	0.93[EUR][1000 genomes]
rs72859591	0.93[EUR][1000 genomes]
rs72859592	0.93[EUR][1000 genomes]
rs72859596	0.93[EUR][1000 genomes]
rs72859601	0.90[EUR][1000 genomes]
rs72861403	0.90[EUR][1000 genomes]
rs72861429	0.90[EUR][1000 genomes]
rs72861435	0.90[EUR][1000 genomes]
rs72861444	0.90[EUR][1000 genomes]
rs72861451	0.87[EUR][1000 genomes]
rs72861498	0.90[EUR][1000 genomes]
rs72861502	0.90[EUR][1000 genomes]
rs72864110	0.84[EUR][1000 genomes]
rs72864111	0.84[EUR][1000 genomes]
rs72864114	0.84[EUR][1000 genomes]
rs72989965	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72989969	1.00[ASN][1000 genomes]
rs72989981	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72989983	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72993823	1.00[ASN][1000 genomes]
rs7586993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151195600-151199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:151198800-151199200	Active TSS	Duodenum Mucosa	Duodenum
3	chr2:151198800-151199400	Weak transcription	Rectal Mucosa Donor 31	rectum

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