Variant report

Variant	rs9659980
Chromosome Location	chr1:71402788-71402789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71381219..71383532-chr1:71401301..71402871,2	K562	blood:
2	chr1:71398892..71400673-chr1:71400772..71403313,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10489418	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209727	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801026	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062835	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17090741	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17090749	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097545	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41485048	1.00[ASN][1000 genomes]
rs55919390	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424413	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087118	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087138	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087140	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087142	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515196	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524846	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540274	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540384	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541936	1.00[ASN][1000 genomes]
rs879424	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:71400600-71404800	Weak transcription	Aorta	Aorta
2	chr1:71400800-71412400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71401000-71406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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