Variant report

Variant	rs8089773
Chromosome Location	chr18:13458063-13458064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10502421	0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs8087070	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8090616	1.00[CHB][hapmap]

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	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv909411	chr18:13425604-13493554	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8089773	C18orf1	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13452400-13464800	Weak transcription	Colonic Mucosa	Colon
2	chr18:13452600-13462200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:13453000-13463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:13453000-13464800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:13453000-13494800	Weak transcription	Aorta	Aorta
6	chr18:13453200-13461400	Weak transcription	Adipose Nuclei	Adipose
7	chr18:13454200-13458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:13454200-13463200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:13455000-13460000	Enhancers	Primary hematopoietic stem cells	blood
10	chr18:13455200-13461000	Weak transcription	Liver	Liver
11	chr18:13456000-13461000	Genic enhancers	Dnd41	blood
12	chr18:13456000-13463200	Weak transcription	Brain Hippocampus Middle	brain
13	chr18:13456400-13460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:13456400-13461000	Weak transcription	Esophagus	oesophagus
15	chr18:13456400-13461000	Weak transcription	Psoas Muscle	Psoas
16	chr18:13456400-13464800	Weak transcription	Spleen	Spleen
17	chr18:13456400-13467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:13456600-13460800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:13456600-13461000	Weak transcription	Left Ventricle	heart
20	chr18:13456600-13461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr18:13456600-13461200	Weak transcription	Brain Anterior Caudate	brain
22	chr18:13456600-13462200	Weak transcription	Right Ventricle	heart
23	chr18:13456600-13497800	Weak transcription	Gastric	stomach
24	chr18:13456800-13460400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:13456800-13460800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:13456800-13461200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:13456800-13463200	Genic enhancers	Fetal Thymus	thymus
28	chr18:13457000-13459000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr18:13457000-13460800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr18:13457000-13461000	Weak transcription	Primary T cells from cord blood	blood
31	chr18:13457000-13461000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr18:13457000-13461000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr18:13457200-13458400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:13457200-13459800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:13457200-13461000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:13457200-13461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:13457400-13459000	Genic enhancers	Thymus	Thymus
38	chr18:13457400-13461200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr18:13457400-13461200	Weak transcription	Brain Substantia Nigra	brain
40	chr18:13457400-13461400	Weak transcription	Fetal Brain Female	brain
41	chr18:13457400-13461600	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:13457400-13461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:13457400-13470400	Weak transcription	Fetal Heart	heart
44	chr18:13457600-13458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr18:13457600-13462000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr18:13457800-13458400	ZNF genes & repeats	Pancreas	Pancrea
47	chr18:13457800-13459000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:13457800-13459200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr18:13457800-13460000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr18:13457800-13463200	Weak transcription	Monocytes-CD14+_RO01746	blood

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