Variant report

Variant	rs7007494
Chromosome Location	chr8:100033601-100033602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100030902..100033864-chr8:100036860..100038785,2	MCF-7	breast:
2	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
3	chr8:100023962..100027338-chr8:100028316..100036117,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10087533	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10088152	0.80[AMR][1000 genomes]
rs10091793	0.85[AMR][1000 genomes]
rs10092190	0.85[AMR][1000 genomes]
rs10096925	0.85[AMR][1000 genomes]
rs10098153	0.85[AMR][1000 genomes]
rs10104826	0.85[AMR][1000 genomes]
rs10106041	0.87[AMR][1000 genomes]
rs10108567	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10109066	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10216478	0.81[AMR][1000 genomes]
rs10808363	0.85[AMR][1000 genomes]
rs10808364	0.83[AMR][1000 genomes]
rs10955197	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10955202	0.84[AMR][1000 genomes]
rs11786078	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12547301	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12547849	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12550128	0.84[AMR][1000 genomes]
rs12680054	0.85[AMR][1000 genomes]
rs13256012	0.85[AMR][1000 genomes]
rs13277925	0.80[AMR][1000 genomes]
rs28886569	0.80[AMR][1000 genomes]
rs2922070	0.81[AMR][1000 genomes]
rs34211616	0.85[AMR][1000 genomes]
rs34836224	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35018432	0.85[AMR][1000 genomes]
rs4131359	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4236854	0.85[AMR][1000 genomes]
rs4260868	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4307310	0.81[AMR][1000 genomes]
rs4317539	0.85[AMR][1000 genomes]
rs4319053	0.85[AMR][1000 genomes]
rs4327836	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4394363	0.87[AMR][1000 genomes]
rs4428646	0.80[AMR][1000 genomes]
rs4446702	0.83[AMR][1000 genomes]
rs4455798	0.80[AMR][1000 genomes]
rs4461878	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4481561	0.80[AMR][1000 genomes]
rs4489303	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4493885	0.80[AMR][1000 genomes]
rs4520132	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4734421	0.87[AMR][1000 genomes]
rs4735603	0.85[AMR][1000 genomes]
rs4735604	0.85[AMR][1000 genomes]
rs4735607	0.84[AMR][1000 genomes]
rs55691643	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55837765	0.80[AMR][1000 genomes]
rs55871624	0.85[AMR][1000 genomes]
rs56315283	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60950457	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60967421	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6415433	0.85[AMR][1000 genomes]
rs6468647	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6468663	0.85[AMR][1000 genomes]
rs6468665	0.85[AMR][1000 genomes]
rs6468669	0.85[AMR][1000 genomes]
rs6468671	0.84[AMR][1000 genomes]
rs6986710	0.85[AMR][1000 genomes]
rs6989201	0.85[AMR][1000 genomes]
rs6990741	0.80[AMR][1000 genomes]
rs6991283	0.85[AMR][1000 genomes]
rs6991585	0.85[AMR][1000 genomes]
rs6992480	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6993878	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6997225	0.85[AMR][1000 genomes]
rs7006391	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7011648	0.85[AMR][1000 genomes]
rs7016044	0.83[AMR][1000 genomes]
rs7017261	0.85[AMR][1000 genomes]
rs72668476	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72668483	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670294	0.85[AMR][1000 genomes]
rs72670297	0.85[AMR][1000 genomes]
rs72670301	0.85[AMR][1000 genomes]
rs72672309	0.84[AMR][1000 genomes]
rs72672313	0.85[AMR][1000 genomes]
rs7341605	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7460376	0.84[AMR][1000 genomes]
rs7462457	0.85[AMR][1000 genomes]
rs7815414	0.80[AMR][1000 genomes]
rs7818051	0.85[AMR][1000 genomes]
rs7835084	0.85[AMR][1000 genomes]
rs7836899	0.84[AMR][1000 genomes]
rs7840337	0.84[AMR][1000 genomes]
rs7842393	0.85[AMR][1000 genomes]
rs9297289	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7007494	ARHGEF12	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100026200-100036800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:100026200-100044000	Weak transcription	Esophagus	oesophagus
4	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:100026200-100047000	Weak transcription	Gastric	stomach
6	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
7	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:100026400-100033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:100026400-100036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:100026400-100036200	Weak transcription	Psoas Muscle	Psoas
11	chr8:100026400-100036400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:100026400-100036400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:100026400-100036400	Weak transcription	Thymus	Thymus
14	chr8:100026400-100036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:100026400-100037400	Weak transcription	Stomach Mucosa	stomach
16	chr8:100026400-100039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:100026400-100040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:100026400-100044000	Weak transcription	Aorta	Aorta
19	chr8:100026400-100046200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:100026600-100038600	Weak transcription	Left Ventricle	heart
21	chr8:100026600-100043800	Weak transcription	Spleen	Spleen
22	chr8:100026600-100047000	Weak transcription	Lung	lung
23	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:100026800-100035600	Weak transcription	Brain Germinal Matrix	brain
25	chr8:100027000-100035200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:100027000-100036000	Weak transcription	NHEK	skin
27	chr8:100027000-100036200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:100027000-100036400	Weak transcription	Ovary	ovary
29	chr8:100027000-100036400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:100027000-100036400	Weak transcription	HUVEC	blood vessel
31	chr8:100027000-100043800	Weak transcription	Fetal Stomach	stomach
32	chr8:100027000-100046200	Weak transcription	HSMMtube	muscle
33	chr8:100027000-100046200	Weak transcription	NH-A	brain
34	chr8:100027000-100046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:100027200-100036200	Weak transcription	Fetal Brain Female	brain
36	chr8:100027200-100037800	Weak transcription	HepG2	liver
37	chr8:100027200-100046400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:100027200-100057000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:100027400-100036400	Weak transcription	Primary T cells from cord blood	blood
40	chr8:100028200-100036000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:100028400-100046800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:100028600-100053000	Weak transcription	Hela-S3	cervix
43	chr8:100028800-100033800	Weak transcription	Fetal Thymus	thymus
44	chr8:100029600-100086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:100030600-100047000	Weak transcription	Pancreas	Pancrea
46	chr8:100030800-100047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:100031800-100036400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:100032200-100034200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:100032200-100035400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:100032200-100036200	Weak transcription	Primary B cells from cord blood	blood

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