Variant report

Variant	rs729386
Chromosome Location	chr2:111705738-111705739
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	chr2:111695965..111698914-chr2:111704650..111707242,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10169852	0.81[MEX][hapmap]
rs1105601	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3789108	0.82[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs3789109	0.82[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4849155	0.81[MEX][hapmap]
rs6758192	0.90[ASN][1000 genomes]
rs907861	0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs931256	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs729386	IL1F5	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111693000-111706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111704000-111706400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:111704200-111705800	Enhancers	Lung	lung
4	chr2:111704200-111705800	Enhancers	Right Ventricle	heart
5	chr2:111704200-111706600	Enhancers	Fetal Heart	heart
6	chr2:111704200-111706800	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:111704200-111706800	Enhancers	Left Ventricle	heart
8	chr2:111704200-111707000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:111704200-111709600	Enhancers	Fetal Lung	lung
10	chr2:111704400-111705800	Enhancers	Psoas Muscle	Psoas
11	chr2:111704400-111706200	Enhancers	Adipose Nuclei	Adipose
12	chr2:111704600-111706600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:111704600-111707000	Enhancers	Right Atrium	heart
14	chr2:111704800-111706200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:111704800-111707200	Enhancers	Fetal Stomach	stomach
16	chr2:111705000-111706000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:111705200-111706200	Enhancers	Fetal Intestine Small	intestine
18	chr2:111705200-111706400	Enhancers	Colon Smooth Muscle	Colon
19	chr2:111705400-111706600	Enhancers	Fetal Intestine Large	intestine
20	chr2:111705400-111706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:111705600-111705800	Enhancers	Fetal Brain Male	brain
22	chr2:111705600-111705800	Enhancers	Small Intestine	intestine
23	chr2:111705600-111706200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:111705600-111706200	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:111705600-111706200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:111705600-111706200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:111705600-111706600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:111705600-111706600	Enhancers	Skeletal Muscle Male	skeletal muscle

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