Variant report

Variant	rs7947515
Chromosome Location	chr11:73005788-73005789
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73004772..73007681-chr11:73025999..73028203,2	MCF-7	breast:
2	chr11:72931565..72933300-chr11:73003865..73006749,2	MCF-7	breast:
3	chr11:72998786..73004272-chr11:73004336..73008265,7	MCF-7	breast:
4	chr11:73004894..73006465-chr11:73028273..73031110,2	MCF-7	breast:
5	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:
6	chr11:72998137..73001549-chr11:73005628..73009315,3	MCF-7	breast:
7	chr11:73004033..73006704-chr11:73087002..73089869,3	K562	blood:
8	chr11:73005626..73007527-chr11:73045532..73047567,16	MCF-7	breast:
9	chr11:73004033..73007827-chr11:73087002..73090678,3	K562	blood:
10	chr11:73004298..73006614-chr11:73044589..73046536,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11821094	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2027760	0.94[EUR][1000 genomes]
rs2027761	0.94[EUR][1000 genomes]
rs2027763	0.91[EUR][1000 genomes]
rs3741149	0.81[EUR][1000 genomes]
rs3741151	0.81[EUR][1000 genomes]
rs3741152	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.83[EUR][1000 genomes]
rs60784246	0.87[ASN][1000 genomes]
rs61705659	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7102787	0.96[EUR][1000 genomes]
rs7105681	0.91[EUR][1000 genomes]
rs7105705	0.96[EUR][1000 genomes]
rs7107905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7115806	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125949	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125978	0.94[EUR][1000 genomes]
rs7129663	0.81[EUR][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
rs7947515	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000600-73011200	Weak transcription	Aorta	Aorta
2	chr11:73000800-73006200	Weak transcription	Right Atrium	heart
3	chr11:73000800-73007400	Weak transcription	Right Ventricle	heart
4	chr11:73000800-73008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
6	chr11:73001000-73006200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:73001000-73006200	Weak transcription	Fetal Heart	heart
8	chr11:73001000-73006200	Weak transcription	Hela-S3	cervix
9	chr11:73001000-73006200	Weak transcription	HMEC	breast
10	chr11:73001000-73006200	Weak transcription	HSMM	muscle
11	chr11:73001000-73006400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:73001000-73006400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:73001000-73006400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:73001000-73006400	Weak transcription	Left Ventricle	heart
15	chr11:73001200-73006200	Weak transcription	HUVEC	blood vessel
16	chr11:73001200-73010800	Weak transcription	Adipose Nuclei	Adipose
17	chr11:73002000-73006400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:73002800-73007200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:73003400-73006800	Weak transcription	Fetal Intestine Small	intestine
20	chr11:73003400-73007000	Weak transcription	Fetal Intestine Large	intestine
21	chr11:73003600-73006200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:73003800-73005800	Weak transcription	Osteobl	bone
23	chr11:73003800-73006000	Weak transcription	A549	lung
24	chr11:73003800-73006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:73004000-73006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73004000-73006200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:73004000-73011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73004200-73006000	Weak transcription	NH-A	brain
29	chr11:73004400-73006400	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:73004400-73006800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:73004400-73010800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:73004400-73011400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:73004600-73006400	Weak transcription	Spleen	Spleen
34	chr11:73005000-73006400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:73005000-73006600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:73005000-73007400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:73005200-73008000	Genic enhancers	Placenta	Placenta
38	chr11:73005400-73005800	Weak transcription	NHDF-Ad	bronchial
39	chr11:73005600-73006200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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