Variant report

Variant	rs56176008
Chromosome Location	chr8:67043123-67043124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67041475..67043623-chr8:67049096..67052044,2	K562	blood:
2	chr8:67036073..67039322-chr8:67041208..67043405,3	K562	blood:
3	chr8:67036073..67039322-chr8:67041208..67043405,4	K562	blood:
4	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147573	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10096789	0.92[EUR][1000 genomes]
rs13439818	0.88[EUR][1000 genomes]
rs34083382	0.90[EUR][1000 genomes]
rs55640054	0.97[EUR][1000 genomes]
rs55691225	0.92[EUR][1000 genomes]
rs55745275	0.92[EUR][1000 genomes]
rs56163324	0.97[EUR][1000 genomes]
rs57390453	0.97[EUR][1000 genomes]
rs61738600	0.97[EUR][1000 genomes]
rs6472244	0.97[EUR][1000 genomes]
rs6982394	0.97[EUR][1000 genomes]
rs6983227	0.97[EUR][1000 genomes]
rs6986947	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6990486	0.97[EUR][1000 genomes]
rs6992031	0.97[EUR][1000 genomes]
rs6992434	0.97[EUR][1000 genomes]
rs6998258	0.90[EUR][1000 genomes]
rs7005882	0.97[EUR][1000 genomes]
rs7006209	0.97[EUR][1000 genomes]
rs7006908	1.00[ASN][1000 genomes]
rs7010547	0.97[EUR][1000 genomes]
rs73236728	0.87[EUR][1000 genomes]
rs749328	0.92[EUR][1000 genomes]
rs7813194	0.92[EUR][1000 genomes]
rs7813201	0.92[EUR][1000 genomes]
rs7838582	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839635	0.90[EUR][1000 genomes]
rs7843436	0.97[EUR][1000 genomes]
rs7845017	0.97[EUR][1000 genomes]
rs884325	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs959302	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67044800	Weak transcription	Pancreas	Pancrea
2	chr8:67036800-67044800	Weak transcription	Spleen	Spleen
3	chr8:67036800-67046400	Enhancers	NHLF	lung
4	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
5	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67038800-67043800	Active TSS	Right Ventricle	heart
7	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:67039400-67043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:67040200-67043600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:67040200-67043600	Enhancers	Osteobl	bone
11	chr8:67040200-67045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
13	chr8:67040400-67046400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:67040800-67044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:67041000-67046200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:67041400-67045200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:67041600-67044800	Weak transcription	Psoas Muscle	Psoas
18	chr8:67042200-67043200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:67042400-67043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:67042400-67043400	Enhancers	Placenta	Placenta
21	chr8:67042400-67047200	Enhancers	Fetal Muscle Leg	muscle
22	chr8:67042600-67044000	Enhancers	Left Ventricle	heart
23	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:67042800-67043200	Active TSS	HSMM	muscle
25	chr8:67042800-67043600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:67042800-67043600	Weak transcription	Fetal Heart	heart
27	chr8:67042800-67043600	Weak transcription	Right Atrium	heart
28	chr8:67042800-67043800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:67042800-67044000	Enhancers	Liver	Liver
30	chr8:67042800-67044400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:67042800-67044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:67042800-67044600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:67042800-67044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:67042800-67044800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:67042800-67044800	Weak transcription	NH-A	brain
36	chr8:67042800-67046000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:67043000-67043400	Weak transcription	A549	lung
38	chr8:67043000-67043400	Enhancers	HSMMtube	muscle
39	chr8:67043000-67044400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:67043000-67044600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:67043000-67044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:67043000-67044600	Weak transcription	HMEC	breast
43	chr8:67043000-67044600	Weak transcription	NHEK	skin

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