Variant report

Variant	rs10156225
Chromosome Location	chr8:117732100-117732101
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	chr8:117730565..117733333-chr8:117735015..117736708,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10089833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108262	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10111411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10283122	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs10808483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775890	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12155774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375316	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542425	0.81[AFR][1000 genomes]
rs12547079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547108	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13257365	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13260809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264928	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13266314	0.88[TSI][hapmap]
rs1436767	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs17664079	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs28431802	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34007155	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35792844	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304349	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372028	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs4406425	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4449824	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs4637871	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876673	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876677	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876678	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62510182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992589	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs6995719	0.85[ASN][1000 genomes]
rs6995838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004009	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011256	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014156	0.83[CEU][hapmap]
rs7843792	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs9792358	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10156225	C14orf45	trans	cerebellum	SCAN
rs10156225	MRPL13	cis	parietal	SCAN
rs10156225	C8orf53	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
2	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
3	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:117716000-117733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:117717800-117732600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:117718000-117733400	Weak transcription	Right Ventricle	heart
9	chr8:117718800-117732600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:117719200-117732600	Weak transcription	Gastric	stomach
11	chr8:117719200-117732600	Weak transcription	Left Ventricle	heart
12	chr8:117719200-117733200	Weak transcription	Pancreas	Pancrea
13	chr8:117719400-117733200	Weak transcription	Ovary	ovary
14	chr8:117721600-117732600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:117722000-117740800	Weak transcription	NHLF	lung
17	chr8:117722400-117732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:117722400-117732600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:117722400-117732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:117722400-117732800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:117722400-117732800	Weak transcription	HMEC	breast
22	chr8:117722400-117733200	Weak transcription	Aorta	Aorta
23	chr8:117722400-117733200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
25	chr8:117722600-117732600	Weak transcription	K562	blood
26	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
27	chr8:117723000-117732600	Weak transcription	Dnd41	blood
28	chr8:117723200-117732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:117724600-117732600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:117724600-117733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:117724600-117738800	Weak transcription	Psoas Muscle	Psoas
32	chr8:117724800-117732600	Weak transcription	Fetal Heart	heart
33	chr8:117726800-117732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:117726800-117735800	Weak transcription	HSMM	muscle
35	chr8:117727000-117732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:117727000-117732600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:117727200-117732600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:117727400-117732600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:117727400-117732600	Weak transcription	NHDF-Ad	bronchial
40	chr8:117727400-117733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:117727400-117733200	Weak transcription	NH-A	brain
42	chr8:117727600-117732600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:117727800-117733000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:117728000-117732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:117728000-117732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:117728000-117732600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:117728000-117732600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:117728000-117732600	Weak transcription	Brain Anterior Caudate	brain
49	chr8:117728000-117732600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:117728000-117732600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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