Variant report

Variant	rs72830145
Chromosome Location	chr17:20012496-20012497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20006703..20009085-chr17:20010910..20012831,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16960662	0.87[EUR][1000 genomes]
rs16960672	0.87[EUR][1000 genomes]
rs55650639	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55814709	0.89[EUR][1000 genomes]
rs55832890	0.89[EUR][1000 genomes]
rs55853482	0.89[EUR][1000 genomes]
rs55854412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891925	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55939726	0.89[EUR][1000 genomes]
rs56002404	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56009494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56009515	0.87[EUR][1000 genomes]
rs56020078	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56020655	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56034568	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56074205	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56186136	0.87[EUR][1000 genomes]
rs56194672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56208903	0.89[EUR][1000 genomes]
rs56267204	0.89[EUR][1000 genomes]
rs56281769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56301435	0.87[EUR][1000 genomes]
rs56344048	0.87[EUR][1000 genomes]
rs7207672	0.87[EUR][1000 genomes]
rs72830109	0.87[EUR][1000 genomes]
rs72830114	0.87[EUR][1000 genomes]
rs72830123	0.87[EUR][1000 genomes]
rs72830128	0.89[EUR][1000 genomes]
rs72830139	0.88[EUR][1000 genomes]
rs72830141	0.92[EUR][1000 genomes]
rs72830150	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72830153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830177	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72830178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830179	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72830188	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72830191	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830194	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830197	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72830202	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72832504	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72832506	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72832508	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72832515	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72832518	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72832520	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72832522	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:20002200-20018800	Weak transcription	Spleen	Spleen
3	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr17:20002400-20013600	Weak transcription	Aorta	Aorta
5	chr17:20004000-20013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:20007000-20013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:20007000-20013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20007200-20013600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:20007400-20013600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:20007400-20013600	Weak transcription	Ovary	ovary
11	chr17:20007400-20015000	Weak transcription	Adipose Nuclei	Adipose
12	chr17:20007400-20024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:20007600-20013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20007600-20013600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:20007600-20019800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:20007600-20020200	Weak transcription	Brain Angular Gyrus	brain
17	chr17:20007600-20024000	Weak transcription	Brain Substantia Nigra	brain
18	chr17:20007800-20017800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:20007800-20020200	Weak transcription	Brain Anterior Caudate	brain
20	chr17:20007800-20024000	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:20009200-20024200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:20010800-20017200	Weak transcription	Primary T cells from cord blood	blood
23	chr17:20011800-20012600	Enhancers	A549	lung
24	chr17:20011800-20019200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:20012000-20018400	Strong transcription	Primary monocytes fromperipheralblood	blood

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