Variant report

Variant	rs294803
Chromosome Location	chr9:10208117-10208118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1070129	0.89[AMR][1000 genomes]
rs1070130	0.89[AMR][1000 genomes]
rs294804	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs294815	0.89[AMR][1000 genomes]
rs294816	0.89[AMR][1000 genomes]
rs294817	0.89[AMR][1000 genomes]
rs294818	0.89[AMR][1000 genomes]
rs35141255	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs401118	0.89[AMR][1000 genomes]
rs408807	0.89[AMR][1000 genomes]
rs410601	0.89[AMR][1000 genomes]
rs575932	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034731	chr9:9776126-10481262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv892295	chr9:9832245-10380406	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030657	chr9:10002355-10481262	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024401	chr9:10105656-10218577	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv539995	chr9:10105656-10218577	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1033178	chr9:10169848-10428731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv471280	chr9:10172572-10277602	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv466158	chr9:10172573-10277602	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv613375	chr9:10172573-10277602	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2758179	chr9:10188450-10370398	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2759666	chr9:10188450-10370398	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv892310	chr9:10197122-10279606	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv416854	chr9:10202700-10210812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10207800-10208800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr9:10207800-10209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:10207800-10209200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:10208000-10208200	Active TSS	Primary B cells from cord blood	blood
5	chr9:10208000-10208400	Active TSS	Fetal Intestine Small	intestine
6	chr9:10208000-10208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr9:10208000-10208800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:10208000-10208800	Active TSS	Primary B cells from peripheral blood	blood
9	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:10208000-10208800	Active TSS	Adipose Nuclei	Adipose
12	chr9:10208000-10208800	Active TSS	Colon Smooth Muscle	Colon
13	chr9:10208000-10208800	Active TSS	Fetal Brain Female	brain
14	chr9:10208000-10208800	Active TSS	Fetal Kidney	kidney
15	chr9:10208000-10208800	Active TSS	Fetal Lung	lung
16	chr9:10208000-10208800	Active TSS	Fetal Stomach	stomach
17	chr9:10208000-10208800	Active TSS	Right Ventricle	heart
18	chr9:10208000-10208800	Active TSS	A549	lung
19	chr9:10208000-10208800	Active TSS	HUVEC	blood vessel
20	chr9:10208000-10208800	Active TSS	NH-A	brain
21	chr9:10208000-10209000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr9:10208000-10209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:10208000-10209000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:10208000-10209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:10208000-10209000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:10208000-10209000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:10208000-10209000	Active TSS	Liver	Liver
28	chr9:10208000-10209000	Active TSS	Brain Hippocampus Middle	brain
29	chr9:10208000-10209000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr9:10208000-10209000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:10208000-10209000	Active TSS	Right Atrium	heart
32	chr9:10208000-10209000	Active TSS	NHEK	skin
33	chr9:10208000-10209200	Active TSS	Brain Anterior Caudate	brain

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