Variant report

Variant	rs7125949
Chromosome Location	chr11:73009084-73009085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73008083..73009994-chr11:73047285..73048973,2	MCF-7	breast:
2	chr11:73006048..73010215-chr11:73011850..73015047,4	MCF-7	breast:
3	chr11:72998137..73001549-chr11:73005628..73009315,3	MCF-7	breast:
4	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002127	0.89[CEU][hapmap]
rs11235770	0.89[CEU][hapmap]
rs11821094	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11823913	0.89[CEU][hapmap]
rs11823923	0.85[CHB][hapmap]
rs11828904	0.89[CEU][hapmap]
rs12288753	0.89[CEU][hapmap]
rs12290623	0.89[CEU][hapmap]
rs17244596	0.89[CEU][hapmap]
rs17851510	0.89[CEU][hapmap]
rs1938777	0.89[CEU][hapmap]
rs2027760	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2027761	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2027763	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2298469	0.89[CEU][hapmap]
rs3741149	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3741151	0.82[EUR][1000 genomes]
rs3741152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.81[EUR][1000 genomes]
rs60784246	0.87[ASN][1000 genomes]
rs61705659	0.96[EUR][1000 genomes]
rs7102787	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7105681	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7105705	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7107905	0.85[EUR][1000 genomes]
rs7114009	0.89[CEU][hapmap]
rs7115806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.89[CEU][hapmap]
rs7122825	1.00[CEU][hapmap]
rs7125598	0.89[CEU][hapmap]
rs7125978	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7129663	0.82[EUR][1000 genomes]
rs7925226	0.89[CEU][hapmap]
rs7930454	1.00[CEU][hapmap]
rs7930880	1.00[CEU][hapmap]
rs7934218	0.89[CEU][hapmap]
rs7941359	0.89[CEU][hapmap]
rs7947515	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7125949	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000600-73011200	Weak transcription	Aorta	Aorta
2	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
3	chr11:73001200-73010800	Weak transcription	Adipose Nuclei	Adipose
4	chr11:73004000-73011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:73004400-73010800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:73004400-73011400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:73006600-73009400	Strong transcription	Spleen	Spleen
8	chr11:73006600-73011400	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:73006600-73011600	Weak transcription	HSMMtube	muscle
10	chr11:73006600-73018000	Weak transcription	Right Atrium	heart
11	chr11:73006800-73009400	Strong transcription	A549	lung
12	chr11:73006800-73010200	Strong transcription	Fetal Intestine Small	intestine
13	chr11:73006800-73017600	Weak transcription	Fetal Heart	heart
14	chr11:73007000-73009800	Strong transcription	Fetal Intestine Large	intestine
15	chr11:73007000-73010200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:73007000-73011400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73007000-73017800	Weak transcription	Osteobl	bone
18	chr11:73007200-73009200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:73007200-73010200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:73007200-73011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73007200-73011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:73007400-73009400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:73008000-73009800	Strong transcription	Placenta	Placenta
24	chr11:73008200-73009600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:73008200-73010800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:73008200-73017800	Weak transcription	Right Ventricle	heart
27	chr11:73008400-73009200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:73008600-73009400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:73009000-73009400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:73009000-73009400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:73009000-73012200	Enhancers	Primary neutrophils fromperipheralblood	blood

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