Variant report

Variant	rs73542929
Chromosome Location	chr11:73094539-73094540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73062366..73063986-chr11:73092410..73095271,2	K562	blood:
2	chr11:73021516..73024387-chr11:73093519..73096239,3	MCF-7	breast:
3	chr11:73092651..73094843-chr11:73114830..73116410,2	K562	blood:
4	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:
5	chr11:73094465..73097128-chr11:73103211..73106903,3	MCF-7	breast:
6	chr11:73069945..73072738-chr11:73094072..73096401,3	K562	blood:

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000256448	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1002127	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898917	0.87[EUR][1000 genomes]
rs11544310	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12099129	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17851510	0.80[EUR][1000 genomes]
rs28400367	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741149	0.83[EUR][1000 genomes]
rs3741151	0.83[EUR][1000 genomes]
rs56742470	0.91[AMR][1000 genomes]
rs57354084	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57893472	0.81[EUR][1000 genomes]
rs58334887	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60924672	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61345051	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592526	1.00[AMR][1000 genomes]
rs7110369	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7112924	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122825	0.81[EUR][1000 genomes]
rs7129546	0.91[AMR][1000 genomes]
rs7129663	0.83[EUR][1000 genomes]
rs73542938	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542952	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542960	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542967	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542976	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542979	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542990	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73544710	0.87[EUR][1000 genomes]
rs73544711	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73544716	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73544720	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73544729	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73544767	1.00[AMR][1000 genomes]
rs7925226	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930880	0.82[EUR][1000 genomes]
rs7941454	0.88[EUR][1000 genomes]
rs7951174	0.97[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	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
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73542929	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73087800-73095200	Enhancers	Fetal Heart	heart
2	chr11:73088400-73100200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:73088600-73100800	Enhancers	Placenta	Placenta
4	chr11:73088800-73097800	Enhancers	Psoas Muscle	Psoas
5	chr11:73089000-73095000	Weak transcription	NHLF	lung
6	chr11:73089000-73096000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:73089000-73099600	Enhancers	A549	lung
8	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:73089200-73094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73089200-73095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:73089200-73096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:73089200-73096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:73089200-73097200	Weak transcription	HMEC	breast
15	chr11:73089200-73097800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:73089400-73096600	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:73089600-73095000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:73089600-73096800	Weak transcription	Osteobl	bone
19	chr11:73089800-73096600	Enhancers	Left Ventricle	heart
20	chr11:73090000-73096200	Weak transcription	HepG2	liver
21	chr11:73090000-73096600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:73090000-73101400	Enhancers	Adipose Nuclei	Adipose
23	chr11:73090600-73099600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73091000-73096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:73091200-73094800	Weak transcription	Pancreas	Pancrea
27	chr11:73091200-73096000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:73091200-73100200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:73091400-73100200	Enhancers	Fetal Thymus	thymus
30	chr11:73091600-73094600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:73091600-73101600	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:73091800-73095600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr11:73091800-73095800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:73092000-73098600	Enhancers	Spleen	Spleen
35	chr11:73092200-73094800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:73092400-73096000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:73092400-73099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73092600-73097600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:73092600-73099000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr11:73092600-73100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:73092800-73094600	Enhancers	Colonic Mucosa	Colon
42	chr11:73092800-73094800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:73092800-73098400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73093000-73094600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:73093000-73095800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:73093000-73096400	Enhancers	K562	blood
47	chr11:73093000-73098600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:73093000-73099400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:73093000-73099600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:73093200-73094800	Enhancers	Skeletal Muscle Male	skeletal muscle

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