Variant report

Variant	rs2118402
Chromosome Location	chr2:85931078-85931079
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	chr2:85930415..85932618-chr2:85965102..85967438,2	K562	blood:
2	chr2:85928909..85931848-chr2:86021884..86024213,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10180391	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180445	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180451	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180547	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10187164	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10187314	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10187495	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10192752	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10203826	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206121	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210321	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11126996	0.83[ASN][1000 genomes]
rs11127	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620113	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12714151	0.81[ASN][1000 genomes]
rs12845	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13389847	0.92[ASN][1000 genomes]
rs13408224	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1437742	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1437743	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1437744	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1437745	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1561284	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1561285	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1837115	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1866138	0.86[ASN][1000 genomes]
rs1866139	0.92[ASN][1000 genomes]
rs1866140	0.87[ASN][1000 genomes]
rs1866141	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070966	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2366807	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2886767	0.85[ASN][1000 genomes]
rs2886768	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34218330	0.92[ASN][1000 genomes]
rs34702373	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34771575	0.85[ASN][1000 genomes]
rs34943381	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35616630	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3755007	0.84[ASN][1000 genomes]
rs4240200	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240201	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240202	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832181	0.80[ASN][1000 genomes]
rs4832185	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832187	0.89[ASN][1000 genomes]
rs55665393	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59832218	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61191323	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62163092	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6547632	0.83[ASN][1000 genomes]
rs6740635	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585576	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7908	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880872	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874465	chr2:85898898-85939207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv874466	chr2:85909026-85939207	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874467	chr2:85916487-85946708	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2118402	AC012454.4	cis	Whole Blood	GTEx
rs2118402	ATOH8	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85922000-85931400	Weak transcription	Lung	lung
2	chr2:85924600-85932200	Weak transcription	Spleen	Spleen
3	chr2:85926000-85931600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:85926000-85931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:85926000-85932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:85926000-85945200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:85926600-85932000	Weak transcription	K562	blood
8	chr2:85927200-85932400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:85928000-85934800	Enhancers	Hela-S3	cervix
10	chr2:85929000-85932000	Weak transcription	Psoas Muscle	Psoas
11	chr2:85929000-85932000	Enhancers	GM12878-XiMat	blood
12	chr2:85929000-85932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:85929800-85932000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:85929800-85932200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:85930000-85932000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:85930000-85932200	Weak transcription	HSMMtube	muscle
17	chr2:85930000-85932200	Weak transcription	NHLF	lung
18	chr2:85930000-85932400	Weak transcription	Osteobl	bone
19	chr2:85930000-85932600	Weak transcription	HUVEC	blood vessel
20	chr2:85930000-85934200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:85930200-85931200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:85930200-85931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:85930200-85931600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:85930200-85932000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:85930200-85932000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:85930200-85932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:85930200-85932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:85930200-85932200	Weak transcription	HMEC	breast
29	chr2:85930200-85932200	Weak transcription	NH-A	brain
30	chr2:85930200-85932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:85930200-85932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:85930200-85932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:85930200-85932400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:85930200-85932400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:85930200-85932400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:85930200-85932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:85930200-85934000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:85930400-85931200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:85930400-85932000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:85930400-85932000	Weak transcription	HSMM	muscle
41	chr2:85930400-85932200	Weak transcription	NHEK	skin
42	chr2:85930400-85934800	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:85930600-85932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:85930600-85932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:85930600-85932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:85930600-85932400	Weak transcription	NHDF-Ad	bronchial
47	chr2:85930800-85931200	Weak transcription	A549	lung
48	chr2:85930800-85932000	Enhancers	Primary B cells from cord blood	blood
49	chr2:85930800-85933400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:85931000-85931200	Enhancers	Fetal Lung	lung

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