Variant report

Variant	rs1845253
Chromosome Location	chr8:86402196-86402197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10088136	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095352	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10111039	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10504813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10907474	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11261474	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs11780285	0.98[ASN][1000 genomes]
rs11985733	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12544332	0.91[JPT][hapmap]
rs1303806	0.95[JPT][hapmap]
rs13252971	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs13255540	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1389245	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1389247	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1390711	0.95[JPT][hapmap]
rs1493302	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1496529	1.00[JPT][hapmap]
rs1496530	1.00[JPT][hapmap]
rs1496531	0.91[JPT][hapmap]
rs1496532	0.91[JPT][hapmap]
rs1532423	1.00[JPT][hapmap]
rs1532424	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1553015	0.95[JPT][hapmap]
rs17042	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1995056	0.90[JPT][hapmap]
rs1995057	0.86[JPT][hapmap]
rs1995058	0.95[JPT][hapmap]
rs2055077	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs20571	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2072696	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2279701	0.87[JPT][hapmap]
rs2291787	0.86[JPT][hapmap]
rs2307075	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403104	0.95[JPT][hapmap]
rs2403105	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2548281	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2645049	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3087782	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3758076	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3758077	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758078	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808539	0.95[JPT][hapmap]
rs4566	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4740049	0.95[JPT][hapmap]
rs55641432	0.94[ASN][1000 genomes]
rs55929157	0.94[ASN][1000 genomes]
rs58958691	0.98[ASN][1000 genomes]
rs67824746	0.94[ASN][1000 genomes]
rs6988475	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997458	1.00[JPT][hapmap]
rs7001359	0.87[JPT][hapmap]
rs7011926	0.95[JPT][hapmap]
rs7016369	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs703	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713488	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs713489	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs725605	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs7386162	0.98[ASN][1000 genomes]
rs903895	0.95[JPT][hapmap]
rs903896	0.95[JPT][hapmap]
rs903897	0.95[JPT][hapmap]
rs9286249	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs931505	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9329911	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs955007	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9969643	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9987281	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs999466	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1845253	CA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:86389600-86402400	Weak transcription	Pancreas	Pancrea
4	chr8:86390400-86403400	Weak transcription	Stomach Mucosa	stomach
5	chr8:86393200-86403400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:86393200-86405400	Weak transcription	Fetal Stomach	stomach
7	chr8:86393400-86403800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:86393400-86403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:86393400-86406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86393600-86402600	Weak transcription	Fetal Kidney	kidney
11	chr8:86396000-86402400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:86396200-86403600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:86396800-86406000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:86397200-86405600	Weak transcription	Gastric	stomach
15	chr8:86397200-86405800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:86397400-86404000	Weak transcription	Left Ventricle	heart
17	chr8:86397800-86402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:86400600-86405200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:86400800-86402600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr8:86401600-86406200	Strong transcription	Brain Hippocampus Middle	brain
21	chr8:86401800-86408200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:86401800-86413400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:86401800-86414200	Weak transcription	Fetal Lung	lung
24	chr8:86402000-86403600	Weak transcription	Liver	Liver
25	chr8:86402000-86414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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