Variant report

Variant	rs6542126
Chromosome Location	chr2:114022569-114022570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3053159	0.86[EUR][1000 genomes]
rs35836064	0.81[TSI][hapmap]
rs6542125	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67081417	0.88[ASN][1000 genomes]
rs6758928	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67626501	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831838	0.87[EUR][1000 genomes]
rs72954658	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558326	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585510	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6542126	IL1F8	cis	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113999600-114028400	Weak transcription	Ovary	ovary
2	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
3	chr2:114015200-114022800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:114015800-114023600	Weak transcription	HSMM	muscle
5	chr2:114016200-114023600	Weak transcription	HSMMtube	muscle
6	chr2:114016200-114028000	Weak transcription	Fetal Brain Female	brain
7	chr2:114016400-114026000	Weak transcription	Fetal Heart	heart
8	chr2:114018800-114023800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:114019000-114022600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:114019200-114024000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:114019200-114026800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:114019400-114028200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:114019600-114026000	Weak transcription	Spleen	Spleen
14	chr2:114020000-114027800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:114020400-114023800	Enhancers	Liver	Liver
16	chr2:114020600-114023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:114021000-114024200	Strong transcription	Placenta	Placenta
18	chr2:114021200-114024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:114021200-114024000	Strong transcription	Lung	lung
20	chr2:114021200-114028200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:114021400-114022800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:114021400-114023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:114021400-114024800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:114021600-114026200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:114021600-114028200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:114021800-114024000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:114022000-114024600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:114022200-114023000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:114022200-114023400	Enhancers	Pancreas	Pancrea
30	chr2:114022200-114026400	Strong transcription	Primary T cells from cord blood	blood
31	chr2:114022200-114027600	Genic enhancers	Fetal Kidney	kidney
32	chr2:114022400-114023400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:114022400-114023800	Strong transcription	Adipose Nuclei	Adipose
34	chr2:114022400-114025000	Strong transcription	Fetal Thymus	thymus

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