Variant report

Variant	rs703
Chromosome Location	chr8:86389403-86389404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087278	0.86[EUR][1000 genomes]
rs10088136	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091566	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095352	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10111039	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10504812	0.95[ASN][1000 genomes]
rs10504813	0.99[ASN][1000 genomes]
rs10907474	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11780285	0.95[ASN][1000 genomes]
rs11985029	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11985733	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1543852	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1845253	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1908075	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs20571	0.88[EUR][1000 genomes]
rs2072696	0.82[ASN][1000 genomes]
rs2307075	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087782	0.91[ASN][1000 genomes]
rs3758076	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758077	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758078	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4566	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55641432	0.91[ASN][1000 genomes]
rs55929157	0.91[ASN][1000 genomes]
rs58958691	0.95[ASN][1000 genomes]
rs67824746	0.91[ASN][1000 genomes]
rs6988475	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016369	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7386162	0.95[ASN][1000 genomes]
rs9286249	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9329911	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs955007	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9969643	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs999466	0.95[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs703	CA2	Cis_1M	lymphoblastoid	RTeQTL
rs703	CA2	cis	multi-tissue	Pritchard

Chromatin state (count:67 , 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	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
3	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
4	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
6	chr8:86377800-86390200	Weak transcription	HMEC	breast
7	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:86378200-86390600	Weak transcription	Brain Germinal Matrix	brain
11	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:86384200-86393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:86384200-86393400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:86384200-86393400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:86384400-86393600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:86384600-86390200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:86384600-86393000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:86385000-86391400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:86385000-86393400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:86385200-86391800	Genic enhancers	Brain Hippocampus Middle	brain
22	chr8:86385200-86393600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:86385600-86393400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:86385600-86393400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:86385800-86390200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:86386000-86392000	Genic enhancers	Brain Substantia Nigra	brain
27	chr8:86386000-86393400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:86386600-86393000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:86386600-86393200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:86386600-86393400	Strong transcription	Liver	Liver
31	chr8:86387000-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:86387000-86393400	Strong transcription	Left Ventricle	heart
33	chr8:86387000-86395200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:86387200-86390800	Weak transcription	Fetal Kidney	kidney
35	chr8:86387200-86393600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:86387200-86395400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:86387400-86391000	Strong transcription	Brain Anterior Caudate	brain
39	chr8:86387400-86391600	Weak transcription	Placenta	Placenta
40	chr8:86387600-86391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:86387600-86391200	Weak transcription	Esophagus	oesophagus
42	chr8:86387600-86391800	Strong transcription	NHEK	skin
43	chr8:86387600-86393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:86387600-86393800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:86388000-86393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:86388200-86391200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr8:86388200-86391400	Strong transcription	Adipose Nuclei	Adipose
48	chr8:86388200-86393400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:86388400-86389600	Strong transcription	Lung	lung
50	chr8:86388400-86393400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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