Variant report

Variant	rs7823511
Chromosome Location	chr8:120615619-120615620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10097147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097368	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10097501	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10098410	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112316	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11991811	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13277188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374100	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289888	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289889	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875905	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4520196	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871360	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986760	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987103	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987232	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007302	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017581	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs755175	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7822457	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935360	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7823511	MAL2	cis	Thyroid	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
4	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
5	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:120607800-120626600	Weak transcription	Liver	Liver
9	chr8:120609800-120617400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:120609800-120623600	Weak transcription	Placenta	Placenta
11	chr8:120610000-120618400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:120610000-120621200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:120613000-120623200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:120613600-120616000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:120613800-120620000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:120614000-120617800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:120614000-120620200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:120614000-120623600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:120614200-120615800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:120614200-120615800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:120614200-120616000	Genic enhancers	NHDF-Ad	bronchial
23	chr8:120614200-120616200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:120614200-120617800	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:120614200-120618000	Weak transcription	Brain Substantia Nigra	brain
26	chr8:120614200-120618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:120614400-120615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:120614800-120615800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:120614800-120615800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:120614800-120615800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:120614800-120615800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:120614800-120615800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:120614800-120628800	Weak transcription	Lung	lung
34	chr8:120615000-120615800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:120615200-120615800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:120615400-120616200	Enhancers	Osteobl	bone
38	chr8:120615400-120624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:120615600-120615800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:120615600-120617200	Weak transcription	Fetal Lung	lung
41	chr8:120615600-120618400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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