Variant report

Variant	rs10088136
Chromosome Location	chr8:86394592-86394593
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087278	0.83[EUR][1000 genomes]
rs10091566	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10095352	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10111039	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10504812	0.92[ASN][1000 genomes]
rs10504813	0.97[ASN][1000 genomes]
rs10907474	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780285	0.92[ASN][1000 genomes]
rs11985029	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11985733	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1543852	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1845253	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1908075	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs20571	0.85[EUR][1000 genomes]
rs2307075	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3087782	0.88[ASN][1000 genomes]
rs3758076	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758077	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758078	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4566	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55641432	0.88[ASN][1000 genomes]
rs55929157	0.88[ASN][1000 genomes]
rs58958691	0.92[ASN][1000 genomes]
rs67824746	0.88[ASN][1000 genomes]
rs6988475	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7016369	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs703	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7386162	0.92[ASN][1000 genomes]
rs9286249	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9329911	0.85[ASN][1000 genomes]
rs955007	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9969643	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs999466	0.92[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
rs10088136	CA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
4	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:86387000-86395200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:86387200-86395400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:86389600-86402400	Weak transcription	Pancreas	Pancrea
10	chr8:86390400-86395200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:86390400-86403400	Weak transcription	Stomach Mucosa	stomach
12	chr8:86390600-86395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:86391200-86395400	Weak transcription	HMEC	breast
14	chr8:86391400-86396000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:86391400-86396400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:86391800-86395600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:86391800-86396000	Weak transcription	NHEK	skin
18	chr8:86392000-86395000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:86393200-86395000	Weak transcription	Right Ventricle	heart
20	chr8:86393200-86395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:86393200-86396200	Weak transcription	Gastric	stomach
22	chr8:86393200-86396600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:86393200-86396600	Weak transcription	Colonic Mucosa	Colon
24	chr8:86393200-86398400	Weak transcription	Lung	lung
25	chr8:86393200-86399200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:86393200-86403400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:86393200-86405400	Weak transcription	Fetal Stomach	stomach
28	chr8:86393400-86395000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:86393400-86395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:86393400-86395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:86393400-86395000	Weak transcription	Liver	Liver
32	chr8:86393400-86395000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:86393400-86395000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:86393400-86395000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:86393400-86395000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:86393400-86395200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:86393400-86395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:86393400-86395200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:86393400-86395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:86393400-86395400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:86393400-86395400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:86393400-86395400	Weak transcription	Brain Angular Gyrus	brain
43	chr8:86393400-86395400	Weak transcription	Brain Anterior Caudate	brain
44	chr8:86393400-86395400	Weak transcription	Brain Substantia Nigra	brain
45	chr8:86393400-86395400	Weak transcription	Fetal Lung	lung
46	chr8:86393400-86395400	Weak transcription	Left Ventricle	heart
47	chr8:86393400-86395600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:86393400-86395600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:86393400-86395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:86393400-86395800	Weak transcription	Brain Cingulate Gyrus	brain

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