Variant report

Variant	rs4890626
Chromosome Location	chr18:43784498-43784499
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43779867..43781418-chr18:43783890..43786002,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11082514	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11082518	0.86[EUR][1000 genomes]
rs11082519	0.89[ASN][1000 genomes]
rs12457516	0.84[ASN][1000 genomes]
rs12605945	0.87[EUR][1000 genomes]
rs12607898	0.88[EUR][1000 genomes]
rs12608232	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12709736	0.87[EUR][1000 genomes]
rs12962307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12962951	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963787	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12963943	0.82[EUR][1000 genomes]
rs12969147	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs1808946	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36191490	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3744858	0.86[EUR][1000 genomes]
rs4335852	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4453594	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4542747	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs4574015	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890317	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4890319	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890320	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890321	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4890628	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4890629	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs4890631	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890632	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4890633	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890634	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890635	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs62098160	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6507677	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6507680	0.84[EUR][1000 genomes]
rs6507682	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6507690	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6507691	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6507692	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6507693	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718513	0.84[EUR][1000 genomes]
rs718514	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7227847	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7228365	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7230154	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7230995	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231430	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7231820	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7234695	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7239351	0.86[EUR][1000 genomes]
rs8084309	0.81[CEU][hapmap]
rs8084829	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8085138	0.84[EUR][1000 genomes]
rs8086610	0.85[EUR][1000 genomes]
rs8086956	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8090542	0.84[EUR][1000 genomes]
rs8093407	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8094070	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8094706	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8095142	0.89[EUR][1000 genomes]
rs8095799	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098751	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8099202	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9675387	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9807157	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9944715	0.87[EUR][1000 genomes]
rs9944767	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9944836	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9945783	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9947206	0.86[EUR][1000 genomes]
rs9948282	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9949494	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9951624	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9952469	0.87[EUR][1000 genomes]
rs9952654	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9956574	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959813	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9959905	0.83[CEU][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9960378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9963153	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4890626	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43755600-43795600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:43756800-43796000	Weak transcription	Esophagus	oesophagus
3	chr18:43758800-43785000	Weak transcription	Fetal Thymus	thymus
4	chr18:43761200-43796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:43763000-43785000	Weak transcription	Small Intestine	intestine
6	chr18:43763000-43795800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:43763400-43799200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:43763600-43796000	Weak transcription	Fetal Lung	lung
9	chr18:43764600-43795800	Weak transcription	Lung	lung
10	chr18:43769200-43802800	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:43770800-43796000	Weak transcription	Brain Substantia Nigra	brain
12	chr18:43771800-43795800	Weak transcription	Brain Anterior Caudate	brain
13	chr18:43772000-43795800	Weak transcription	Adipose Nuclei	Adipose
14	chr18:43772000-43795800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:43772200-43796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:43772800-43795800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:43774400-43795800	Weak transcription	Fetal Stomach	stomach
18	chr18:43776400-43802000	Weak transcription	Brain Germinal Matrix	brain
19	chr18:43776800-43795800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:43777000-43784600	Weak transcription	HSMMtube	muscle
21	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:43777200-43791600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:43777200-43795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:43777800-43795800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
26	chr18:43778200-43789200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr18:43778600-43788400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:43780000-43784600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:43780000-43785000	Weak transcription	HUVEC	blood vessel
30	chr18:43780000-43785200	Weak transcription	Thymus	Thymus
31	chr18:43780000-43791400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:43780000-43791400	Weak transcription	Osteobl	bone
33	chr18:43780000-43793200	Weak transcription	Liver	Liver
34	chr18:43780000-43795800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:43780200-43793200	Weak transcription	Fetal Heart	heart
36	chr18:43780400-43791400	Weak transcription	K562	blood
37	chr18:43780600-43784600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr18:43780600-43784800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:43780600-43784800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:43780600-43786200	Weak transcription	Right Atrium	heart
41	chr18:43780600-43790600	Weak transcription	Left Ventricle	heart
42	chr18:43780800-43785000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr18:43780800-43790600	Weak transcription	Psoas Muscle	Psoas
44	chr18:43781200-43785600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:43781200-43791400	Weak transcription	Hela-S3	cervix
46	chr18:43781400-43784800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:43781400-43785200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr18:43781400-43795200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr18:43781800-43784600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr18:43782000-43789400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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