Variant report

Variant	rs17721472
Chromosome Location	chr9:78978582-78978583
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:78972010..78974968-chr9:78976676..78978619,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11144860	0.86[EUR][1000 genomes]
rs11791134	0.86[EUR][1000 genomes]
rs13284503	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13286468	0.86[EUR][1000 genomes]
rs13289362	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13290389	0.86[EUR][1000 genomes]
rs13291010	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13292857	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13295158	0.86[EUR][1000 genomes]
rs13295871	0.81[EUR][1000 genomes]
rs13298404	0.86[EUR][1000 genomes]
rs13299207	0.86[EUR][1000 genomes]
rs17721466	0.93[EUR][1000 genomes]
rs17777982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34037675	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34046058	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34283683	0.86[EUR][1000 genomes]
rs34307519	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34380148	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34434749	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34571197	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34695412	0.86[EUR][1000 genomes]
rs34922670	0.86[EUR][1000 genomes]
rs34990453	0.86[EUR][1000 genomes]
rs35012067	0.86[EUR][1000 genomes]
rs35031885	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35089043	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35141782	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35171014	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35207397	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35242982	0.86[EUR][1000 genomes]
rs35363570	0.86[EUR][1000 genomes]
rs35432738	0.81[EUR][1000 genomes]
rs35800025	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35968404	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58998344	0.83[EUR][1000 genomes]
rs7046651	0.86[EUR][1000 genomes]
rs71509866	0.89[EUR][1000 genomes]
rs71509867	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71509868	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71509870	0.86[EUR][1000 genomes]
rs71509872	0.86[EUR][1000 genomes]
rs71509873	0.86[EUR][1000 genomes]
rs71509874	0.86[EUR][1000 genomes]
rs71509875	0.86[EUR][1000 genomes]
rs71509878	0.86[EUR][1000 genomes]
rs73652928	0.93[EUR][1000 genomes]
rs7850726	0.93[EUR][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78964400-78986400	Weak transcription	Colonic Mucosa	Colon
2	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
3	chr9:78971400-78979800	Weak transcription	Stomach Mucosa	stomach
4	chr9:78974400-78979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:78975000-78978600	Enhancers	K562	blood
6	chr9:78976400-78980200	Enhancers	Fetal Intestine Large	intestine
7	chr9:78976800-78978800	Enhancers	HepG2	liver
8	chr9:78977400-78978600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:78977800-78979600	Enhancers	Fetal Intestine Small	intestine
10	chr9:78978000-78978600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:78978000-78978800	Enhancers	Small Intestine	intestine
12	chr9:78978000-78979400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr9:78978200-78978800	Enhancers	A549	lung
14	chr9:78978400-78980400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:78978400-78981200	Weak transcription	Duodenum Mucosa	Duodenum

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