Variant report

Variant	rs6987282
Chromosome Location	chr8:48473767-48473768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2632496	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs2632503	0.87[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs2725281	1.00[CEU][hapmap]
rs4391434	1.00[GIH][hapmap]
rs4873387	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473187	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6988862	1.00[GIH][hapmap];0.90[TSI][hapmap]
rs7004819	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6987282	ARHGEF6	trans	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48479200	Weak transcription	Stomach Mucosa	stomach
2	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:48467200-48474200	Weak transcription	Pancreas	Pancrea
4	chr8:48467200-48478800	Weak transcription	Psoas Muscle	Psoas
5	chr8:48467400-48474400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48467400-48475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:48467400-48475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:48467400-48475800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:48467400-48475800	Weak transcription	Fetal Stomach	stomach
10	chr8:48467400-48476000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:48467400-48476000	Weak transcription	Lung	lung
12	chr8:48467400-48478200	Weak transcription	Spleen	Spleen
13	chr8:48467400-48479400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:48467400-48480000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:48467400-48480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:48467400-48481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:48467400-48482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:48467400-48484600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:48467400-48485400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:48467400-48485800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:48467400-48486000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:48467400-48486000	Weak transcription	Esophagus	oesophagus
23	chr8:48467400-48486000	Weak transcription	Gastric	stomach
24	chr8:48467400-48486000	Weak transcription	Ovary	ovary
25	chr8:48467400-48492400	Weak transcription	Left Ventricle	heart
26	chr8:48467600-48477600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:48467600-48479000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:48467600-48479000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:48467600-48480800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:48467800-48480800	Weak transcription	Dnd41	blood
31	chr8:48469000-48481600	Weak transcription	GM12878-XiMat	blood
32	chr8:48470600-48474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:48470800-48474800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:48470800-48474800	Weak transcription	Placenta	Placenta
35	chr8:48470800-48478800	Weak transcription	Adipose Nuclei	Adipose
36	chr8:48471200-48474600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:48472200-48480600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:48472200-48481000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:48472400-48481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:48472600-48473800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:48472600-48474000	Enhancers	Fetal Heart	heart
42	chr8:48473000-48474400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:48473000-48511400	Weak transcription	Primary T cells from cord blood	blood
44	chr8:48473200-48482000	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:48473400-48473800	Enhancers	Right Atrium	heart
46	chr8:48473600-48473800	Enhancers	Small Intestine	intestine
47	chr8:48473600-48475000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:48473600-48475000	Enhancers	NHLF	lung
49	chr8:48473600-48485400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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