Variant report

Variant	rs3087266
Chromosome Location	chr2:113889100-113889101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1794066	0.90[JPT][hapmap]
rs2071459	0.83[EUR][1000 genomes]
rs2637988	0.90[JPT][hapmap]
rs3087262	0.83[EUR][1000 genomes]
rs315919	0.90[JPT][hapmap]
rs3181052	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs3213448	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4251991	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4252001	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4252019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4252042	0.83[CEU][hapmap]
rs452204	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs928940	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap]
rs973635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3087266	IL1A	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:113882600-113890000	Weak transcription	Lung	lung
3	chr2:113882800-113889200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113885000-113890400	Strong transcription	NHEK	skin
7	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
8	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus
9	chr2:113885800-113891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
11	chr2:113886200-113891200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:113886400-113889600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:113887200-113889200	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:113887400-113889400	Genic enhancers	Liver	Liver
15	chr2:113887400-113889400	Genic enhancers	HepG2	liver
16	chr2:113887400-113890800	Strong transcription	Gastric	stomach
17	chr2:113887400-113890800	Strong transcription	Spleen	Spleen
18	chr2:113888600-113889200	Strong transcription	HMEC	breast
19	chr2:113888600-113892000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:113888800-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:113888800-113891000	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:113888800-113891200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:113888800-113891600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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