Variant report

Variant	rs8090410
Chromosome Location	chr18:43711227-43711228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11663162	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11875115	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12605796	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606184	0.85[ASN][1000 genomes]
rs12607480	0.80[ASN][1000 genomes]
rs12959543	0.85[ASN][1000 genomes]
rs12959827	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12963169	0.83[ASN][1000 genomes]
rs12970379	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1612622	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1618124	0.84[EUR][1000 genomes]
rs1620584	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1620609	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1626506	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1627084	0.80[EUR][1000 genomes]
rs1632043	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1658904	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658905	0.93[EUR][1000 genomes]
rs1658906	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658907	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658908	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1791400	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1791401	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1791406	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1791407	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791408	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791410	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791411	0.88[ASN][1000 genomes]
rs1791412	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791414	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791421	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1866322	0.83[ASN][1000 genomes]
rs28497462	0.83[ASN][1000 genomes]
rs28715068	0.80[ASN][1000 genomes]
rs28768435	0.80[ASN][1000 genomes]
rs28809822	0.81[ASN][1000 genomes]
rs2886001	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35029196	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35211836	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35338711	0.83[ASN][1000 genomes]
rs4274509	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4315430	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4316847	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6507665	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507667	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507675	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7226736	0.83[ASN][1000 genomes]
rs7228642	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7230180	0.80[ASN][1000 genomes]
rs7233665	0.81[ASN][1000 genomes]
rs7234588	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7242845	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8083916	0.80[ASN][1000 genomes]
rs8089015	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8096643	0.85[ASN][1000 genomes]
rs9954133	0.83[ASN][1000 genomes]
rs9954565	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9965365	0.80[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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
3	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
8	chr18:43685400-43717200	Weak transcription	HepG2	liver
9	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
11	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
12	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:43693200-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:43694200-43713600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:43694200-43714000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
18	chr18:43695000-43714800	Weak transcription	HSMMtube	muscle
19	chr18:43695000-43715200	Weak transcription	K562	blood
20	chr18:43695200-43712400	Weak transcription	HMEC	breast
21	chr18:43695200-43712800	Weak transcription	A549	lung
22	chr18:43699600-43711800	Strong transcription	Fetal Thymus	thymus
23	chr18:43699600-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:43700200-43711400	Weak transcription	Hela-S3	cervix
25	chr18:43700400-43712200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:43700600-43711600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:43700600-43712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:43700800-43711800	Strong transcription	Thymus	Thymus
29	chr18:43700800-43712000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr18:43701000-43711800	Weak transcription	Small Intestine	intestine
31	chr18:43701000-43712400	Strong transcription	Fetal Stomach	stomach
32	chr18:43701200-43712400	Strong transcription	Fetal Intestine Small	intestine
33	chr18:43702000-43711600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:43702000-43711800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:43702000-43712200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:43702200-43712200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:43702200-43712200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr18:43702800-43715000	Weak transcription	NHLF	lung
39	chr18:43702800-43715200	Weak transcription	Brain Angular Gyrus	brain
40	chr18:43704600-43711400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr18:43705200-43714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr18:43706000-43714800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
44	chr18:43706600-43712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:43707200-43712200	Weak transcription	Gastric	stomach
46	chr18:43707600-43714000	Strong transcription	Primary T cells from cord blood	blood
47	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
48	chr18:43708000-43711600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:43708400-43712000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr18:43708400-43712200	Strong transcription	Brain Germinal Matrix	brain

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