Variant report

Variant	rs12544623
Chromosome Location	chr8:49087269-49087270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10086138	0.81[AFR][1000 genomes]
rs10086728	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10095363	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10099232	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10099601	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10103627	0.86[AFR][1000 genomes]
rs10104502	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10105954	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10107062	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10107500	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10107531	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10109229	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10110043	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10112655	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10216490	0.93[AMR][1000 genomes]
rs10453133	0.85[AFR][1000 genomes]
rs10958494	0.89[YRI][hapmap]
rs11783647	0.81[AFR][1000 genomes]
rs11783734	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12708172	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12708173	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12708174	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13248162	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13250861	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13251473	0.91[AMR][1000 genomes]
rs13263949	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13265298	0.81[AFR][1000 genomes]
rs13270721	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13276357	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13277100	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13281542	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28421609	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28459674	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28489005	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28539823	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28678298	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28678847	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34075137	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34172095	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34568428	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34608684	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34850099	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35040443	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35088698	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35578152	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35637385	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35748311	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs36004689	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3923232	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3934732	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3934733	0.82[AFR][1000 genomes]
rs3934734	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4130803	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4242483	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242484	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242485	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4263791	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4329299	0.85[AFR][1000 genomes]
rs4373544	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375031	0.83[AFR][1000 genomes]
rs4380968	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4397430	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4475511	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4526384	0.85[AFR][1000 genomes]
rs4527898	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4534147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4543570	0.88[AMR][1000 genomes]
rs4610781	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873781	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873782	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873783	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873784	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873785	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873788	0.89[YRI][hapmap]
rs56683733	0.87[AMR][1000 genomes]
rs58040264	0.82[AMR][1000 genomes]
rs60275259	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61146557	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6474074	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986825	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6990698	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6994417	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994790	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6998272	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7004442	0.80[ASN][1000 genomes]
rs7004828	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7009463	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7011426	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7014393	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73571663	0.85[AMR][1000 genomes]
rs7815183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820720	0.88[AFR][1000 genomes]
rs7822672	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7827365	0.91[AMR][1000 genomes]
rs7831644	0.91[AMR][1000 genomes]
rs7838513	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9657169	0.85[AFR][1000 genomes]
rs9792196	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9792312	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9792353	0.91[AMR][1000 genomes];0.80[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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