Variant report

Variant	rs12683112
Chromosome Location	chr9:86042595-86042596
allele	A/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:22)

rs_ID	r²[population]
rs10868008	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140072	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140079	0.92[AFR][1000 genomes]
rs11140086	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140092	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12235233	0.92[AFR][1000 genomes]
rs12684510	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685254	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17086237	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28512300	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009714	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56039713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57873233	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6559725	0.83[EUR][1000 genomes]
rs72745064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745071	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7856827	0.92[AFR][1000 genomes]
rs7875766	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181119	1.00[ASN][1000 genomes]
rs8181125	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046491	chr9:85861492-86063992	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1048086	chr9:86040900-86059732	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86037800-86047200	Weak transcription	Fetal Stomach	stomach
2	chr9:86038400-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:86038400-86046600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:86039200-86050000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:86040000-86045800	Weak transcription	Fetal Lung	lung
6	chr9:86040000-86045800	Weak transcription	Small Intestine	intestine
7	chr9:86040000-86046000	Weak transcription	Fetal Heart	heart
8	chr9:86040200-86046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:86040400-86045800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:86040400-86050000	Weak transcription	Fetal Intestine Large	intestine
11	chr9:86041600-86045800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:86041800-86044000	Weak transcription	Pancreas	Pancrea
13	chr9:86041800-86045600	Weak transcription	Ovary	ovary
14	chr9:86041800-86045600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:86041800-86045800	Weak transcription	Spleen	Spleen
16	chr9:86041800-86046000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:86041800-86046600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:86041800-86046600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:86041800-86047000	Weak transcription	Brain Angular Gyrus	brain
20	chr9:86042200-86043600	Weak transcription	HepG2	liver
21	chr9:86042200-86045000	Weak transcription	Aorta	Aorta
22	chr9:86042200-86045200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:86042200-86045600	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:86042200-86045600	Weak transcription	Right Atrium	heart
25	chr9:86042200-86045800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:86042200-86045800	Weak transcription	Psoas Muscle	Psoas
27	chr9:86042200-86045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:86042200-86046600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:86042200-86046800	Weak transcription	Lung	lung
30	chr9:86042400-86044400	Weak transcription	Left Ventricle	heart
31	chr9:86042400-86045600	Weak transcription	Adipose Nuclei	Adipose
32	chr9:86042400-86045600	Weak transcription	Gastric	stomach
33	chr9:86042400-86045800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:86042400-86046000	Weak transcription	Right Ventricle	heart
35	chr9:86042400-86046600	Weak transcription	Monocytes-CD14+_RO01746	blood

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