Variant report

Variant	rs34527380
Chromosome Location	chr8:86056031-86056032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10088120	0.93[ASN][1000 genomes]
rs10091577	0.91[ASN][1000 genomes]
rs10091710	0.90[ASN][1000 genomes]
rs10100442	0.92[ASN][1000 genomes]
rs12549421	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12926	0.87[ASN][1000 genomes]
rs13249364	0.92[ASN][1000 genomes]
rs13269031	0.92[ASN][1000 genomes]
rs13269739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28621707	0.85[ASN][1000 genomes]
rs2896454	0.93[ASN][1000 genomes]
rs34103685	0.90[ASN][1000 genomes]
rs3779899	0.92[ASN][1000 genomes]
rs4150859	0.88[ASN][1000 genomes]
rs4150865	0.89[ASN][1000 genomes]
rs4150867	0.88[ASN][1000 genomes]
rs4150868	0.86[ASN][1000 genomes]
rs4150869	0.88[ASN][1000 genomes]
rs4150884	0.88[ASN][1000 genomes]
rs4150909	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4150944	0.83[EUR][1000 genomes]
rs62527168	0.90[ASN][1000 genomes]
rs62527173	0.91[ASN][1000 genomes]
rs7004765	0.93[ASN][1000 genomes]
rs7008032	0.87[ASN][1000 genomes]
rs7010228	0.89[ASN][1000 genomes]
rs7015758	0.93[ASN][1000 genomes]
rs7823218	0.90[ASN][1000 genomes]
rs7829050	0.93[ASN][1000 genomes]
rs7842013	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1797206	chr8:86023237-86060072	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1800945	chr8:86030101-86060072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	nsv397288	chr8:86055325-86057070	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34527380	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs34527380	LRRCC1	cis	Esophagus Mucosa	GTEx
rs34527380	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86020000-86057400	Weak transcription	Small Intestine	intestine
2	chr8:86020400-86056400	Weak transcription	Gastric	stomach
3	chr8:86020400-86057400	Weak transcription	Aorta	Aorta
4	chr8:86020400-86062600	Weak transcription	Pancreas	Pancrea
5	chr8:86020600-86058800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:86021200-86058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:86021200-86059600	Weak transcription	Fetal Brain Male	brain
8	chr8:86021400-86058400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:86025200-86057400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:86028400-86059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:86028600-86056400	Weak transcription	Ovary	ovary
12	chr8:86032800-86057400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:86033000-86059800	Weak transcription	Fetal Thymus	thymus
14	chr8:86037000-86061200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:86038000-86057200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:86038800-86057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:86039400-86056200	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:86039600-86058400	Weak transcription	Esophagus	oesophagus
19	chr8:86040200-86056600	Weak transcription	Fetal Brain Female	brain
20	chr8:86040600-86062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:86043000-86058800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:86043200-86057200	Weak transcription	Left Ventricle	heart
23	chr8:86044200-86060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:86044400-86056200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:86045600-86056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:86045600-86057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:86046600-86064800	Weak transcription	Thymus	Thymus
28	chr8:86046600-86065800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:86048800-86059000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:86049400-86056200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:86049400-86056400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:86049400-86057400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:86049400-86065800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:86050800-86056200	Weak transcription	HMEC	breast
35	chr8:86050800-86061400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:86051000-86056800	Weak transcription	Fetal Lung	lung
37	chr8:86051000-86057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:86051000-86057400	Weak transcription	Adipose Nuclei	Adipose
39	chr8:86051000-86057600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:86051000-86059800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:86051200-86057400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:86051400-86057800	Weak transcription	Brain Angular Gyrus	brain
43	chr8:86053000-86056200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:86053000-86056400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:86054000-86057000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:86054000-86057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:86054200-86059800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:86055000-86057600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:86055000-86059800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:86055000-86062400	Weak transcription	Dnd41	blood

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