Variant report

Variant	rs28391516
Chromosome Location	chr8:131688130-131688131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131540626..131543155-chr8:131685546..131688232,2	K562	blood:
2	chr8:131219589..131220491-chr8:131687421..131688234,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10101684	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1509845	0.81[AMR][1000 genomes]
rs1553792	0.80[EUR][1000 genomes]
rs28668220	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4628270	0.80[EUR][1000 genomes]
rs4736578	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9649964	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650110	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs978494	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131672400-131689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131683400-131688600	Enhancers	NHDF-Ad	bronchial
3	chr8:131684000-131688400	Enhancers	HUVEC	blood vessel
4	chr8:131684400-131688400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:131685600-131688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:131686200-131689600	Weak transcription	Lung	lung
7	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
8	chr8:131686800-131688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:131687000-131688200	Enhancers	Fetal Muscle Leg	muscle
10	chr8:131687000-131688200	Enhancers	Right Ventricle	heart
11	chr8:131687000-131688400	Enhancers	NHLF	lung
12	chr8:131687200-131688200	Enhancers	Brain Germinal Matrix	brain
13	chr8:131687200-131688200	Enhancers	Fetal Brain Male	brain
14	chr8:131687600-131688200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:131687600-131688200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:131687600-131688200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:131687600-131688200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:131687600-131688200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:131687600-131688200	Enhancers	Adipose Nuclei	Adipose
20	chr8:131687600-131688200	Enhancers	Brain Angular Gyrus	brain
21	chr8:131687600-131688200	Enhancers	Brain Hippocampus Middle	brain
22	chr8:131687600-131688200	Enhancers	Fetal Heart	heart
23	chr8:131687600-131688200	Enhancers	Fetal Stomach	stomach
24	chr8:131687600-131688200	Enhancers	Left Ventricle	heart
25	chr8:131687600-131688200	Enhancers	Ovary	ovary
26	chr8:131687600-131688200	Enhancers	Pancreas	Pancrea
27	chr8:131687600-131688200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:131687600-131688200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:131687600-131688200	Enhancers	Stomach Mucosa	stomach
30	chr8:131687600-131688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:131687600-131688400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:131687600-131688400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:131687600-131688400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:131687600-131688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:131687600-131688400	Enhancers	Rectal Smooth Muscle	rectum
38	chr8:131687600-131688400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:131687600-131688400	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:131687600-131688400	Enhancers	A549	lung
41	chr8:131687600-131688400	Enhancers	HSMM	muscle
42	chr8:131687600-131688400	Enhancers	HSMMtube	muscle
43	chr8:131687600-131688400	Enhancers	NH-A	brain
44	chr8:131687600-131688400	Enhancers	NHEK	skin
45	chr8:131687600-131688400	Enhancers	Osteobl	bone
46	chr8:131687800-131688200	Enhancers	Colon Smooth Muscle	Colon
47	chr8:131687800-131688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:131688000-131688200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:131688000-131688200	Enhancers	Placenta	Placenta
50	chr8:131688000-131688200	Enhancers	Right Atrium	heart

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