Variant report

Variant	rs8718
Chromosome Location	chr8:57870847-57870848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:57869598..57872187-chr8:57872498..57874504,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10088040	0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958516	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs988563	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8718	TMEM68	cis	parietal	SCAN
rs8718	IMPAD1	cis	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57863400-57874800	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:57863800-57878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:57866400-57876200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:57866400-57878600	Weak transcription	Ovary	ovary
5	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
6	chr8:57866600-57871000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:57866600-57872800	Weak transcription	Right Ventricle	heart
8	chr8:57866600-57874800	Weak transcription	Placenta	Placenta
9	chr8:57866600-57875400	Weak transcription	Fetal Lung	lung
10	chr8:57866600-57876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:57866600-57876400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:57866800-57871000	Weak transcription	HMEC	breast
13	chr8:57866800-57872600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:57866800-57872600	Weak transcription	Adipose Nuclei	Adipose
15	chr8:57866800-57873200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:57866800-57873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:57866800-57874600	Weak transcription	HSMM	muscle
18	chr8:57866800-57875200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:57866800-57876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:57866800-57876200	Weak transcription	Left Ventricle	heart
21	chr8:57866800-57880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:57867000-57871200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:57867000-57873400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:57867000-57876200	Weak transcription	Brain Germinal Matrix	brain
26	chr8:57867000-57876200	Weak transcription	Thymus	Thymus
27	chr8:57867600-57875600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:57867600-57881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:57867800-57872600	Weak transcription	Fetal Intestine Large	intestine
30	chr8:57867800-57874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:57868000-57872800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:57868000-57875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:57868200-57872800	Weak transcription	Liver	Liver
34	chr8:57868400-57871200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:57868400-57872800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:57868400-57876200	Weak transcription	Psoas Muscle	Psoas
37	chr8:57868400-57878600	Weak transcription	Aorta	Aorta
38	chr8:57868600-57871000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:57868600-57875000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:57868600-57876200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:57868600-57878400	Weak transcription	Fetal Brain Female	brain
42	chr8:57868800-57872600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:57868800-57876200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:57868800-57876200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:57868800-57878400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
47	chr8:57869000-57871600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:57869000-57873400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:57869000-57874800	Weak transcription	GM12878-XiMat	blood
50	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus

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