Variant report

Variant	rs6468643
Chromosome Location	chr8:99791368-99791369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12675964	0.83[AMR][1000 genomes]
rs12679734	0.80[ASN][1000 genomes]
rs2442014	0.80[ASN][1000 genomes]
rs4255105	0.81[ASN][1000 genomes]
rs4304299	0.80[ASN][1000 genomes]
rs4323440	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4413739	0.80[ASN][1000 genomes]
rs4562286	0.80[ASN][1000 genomes]
rs72666694	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6468643	ARHGEF12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
2	chr8:99758600-99794200	Weak transcription	Lung	lung
3	chr8:99759200-99794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:99759800-99793400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:99763800-99794200	Weak transcription	NHLF	lung
6	chr8:99766000-99793200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:99773000-99793000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:99773200-99791400	Weak transcription	A549	lung
9	chr8:99774600-99793000	Weak transcription	Osteobl	bone
10	chr8:99775200-99793000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:99775400-99792800	Weak transcription	Primary B cells from cord blood	blood
12	chr8:99775600-99796200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:99776600-99798600	Weak transcription	Fetal Heart	heart
14	chr8:99776800-99797800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:99777200-99793000	Weak transcription	HSMMtube	muscle
16	chr8:99778000-99791800	Weak transcription	Dnd41	blood
17	chr8:99778600-99796200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:99778800-99793200	Weak transcription	Small Intestine	intestine
19	chr8:99778800-99793400	Weak transcription	HSMM	muscle
20	chr8:99779000-99791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:99779000-99792600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99779000-99792600	Weak transcription	Adipose Nuclei	Adipose
23	chr8:99779000-99792600	Weak transcription	NHDF-Ad	bronchial
24	chr8:99779000-99796400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:99779000-99796400	Weak transcription	Aorta	Aorta
26	chr8:99779000-99796400	Weak transcription	Fetal Lung	lung
27	chr8:99779200-99793000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:99779200-99793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:99779200-99793000	Weak transcription	HMEC	breast
30	chr8:99779200-99793200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:99779200-99793200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:99779400-99796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:99779400-99796200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:99781000-99794200	Weak transcription	Right Atrium	heart
35	chr8:99781400-99792800	Weak transcription	Liver	Liver
36	chr8:99782200-99793600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:99785000-99791800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:99785000-99796600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:99785200-99793200	Weak transcription	Left Ventricle	heart
40	chr8:99785200-99796000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:99785200-99796200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:99785400-99793000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:99785600-99791800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:99785800-99793200	Weak transcription	Placenta	Placenta
45	chr8:99786600-99794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:99787800-99793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:99787800-99793400	Weak transcription	Thymus	Thymus
48	chr8:99788000-99793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:99788000-99793200	Weak transcription	Ovary	ovary
50	chr8:99788200-99792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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