Variant report

Variant	rs10453133
Chromosome Location	chr8:49087244-49087245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10086138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103627	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10106082	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110043	0.81[AFR][1000 genomes]
rs10216585	0.90[AMR][1000 genomes]
rs10958492	0.81[AMR][1000 genomes]
rs10958493	0.83[AMR][1000 genomes]
rs10958494	0.82[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs11781426	0.83[AMR][1000 genomes]
rs12155855	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544623	0.85[AFR][1000 genomes]
rs12681895	0.81[ASN][1000 genomes]
rs12682398	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13252104	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13265298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28678847	0.81[AFR][1000 genomes]
rs35088698	0.80[AFR][1000 genomes]
rs3934733	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3934735	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4072343	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130803	0.82[AFR][1000 genomes]
rs4130805	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4242483	0.82[AFR][1000 genomes]
rs4242484	0.82[AFR][1000 genomes]
rs4263791	0.82[AFR][1000 genomes]
rs4329299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4375031	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4526384	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4534147	0.80[YRI][hapmap]
rs4873788	0.82[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs61146557	0.82[AFR][1000 genomes]
rs67441342	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6993968	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6998272	0.82[AFR][1000 genomes]
rs7004828	0.82[AFR][1000 genomes]
rs7009463	0.82[AFR][1000 genomes]
rs7014393	0.82[AFR][1000 genomes]
rs71548453	0.86[AMR][1000 genomes]
rs7815183	0.80[YRI][hapmap]
rs7816616	0.86[AMR][1000 genomes]
rs7820720	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7830031	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7838513	0.82[AFR][1000 genomes]
rs7844929	0.95[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9298548	0.90[AMR][1000 genomes]
rs9657169	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv611307	chr8:49081709-49093889	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49082600-49088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49084400-49090600	Enhancers	Fetal Stomach	stomach
3	chr8:49084800-49088000	Weak transcription	Osteobl	bone
4	chr8:49085200-49087400	Weak transcription	Liver	Liver
5	chr8:49085200-49087600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:49085200-49087800	Weak transcription	Stomach Mucosa	stomach
7	chr8:49085200-49087800	Weak transcription	NHEK	skin
8	chr8:49085200-49088000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:49085200-49088200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:49085200-49088200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:49085200-49088200	Weak transcription	HepG2	liver
12	chr8:49085200-49098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49085600-49087400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:49085600-49088200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:49085800-49087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:49086400-49088800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:49086400-49089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:49086600-49089200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:49086800-49088200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:49086800-49088800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:49086800-49088800	Enhancers	Fetal Lung	lung
22	chr8:49086800-49089000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:49087000-49088200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:49087000-49088200	Weak transcription	Pancreas	Pancrea
25	chr8:49087200-49087400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:49087200-49088000	Enhancers	Fetal Kidney	kidney
27	chr8:49087200-49088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:49087200-49088200	Weak transcription	Esophagus	oesophagus
29	chr8:49087200-49088400	Weak transcription	Colonic Mucosa	Colon
30	chr8:49087200-49091400	Weak transcription	Gastric	stomach

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