Variant report

Variant	rs2618817
Chromosome Location	chr8:2130886-2130887
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2016028	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2581588	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2581598	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2581600	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2581601	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618820	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2956890	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876210	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2128200-2135400	Enhancers	Fetal Brain Male	brain
2	chr8:2129600-2131000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:2129600-2131000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:2129600-2131800	Enhancers	Right Ventricle	heart
5	chr8:2129600-2132000	Weak transcription	Fetal Brain Female	brain
6	chr8:2129600-2133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:2129600-2133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:2130200-2132400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:2130200-2132800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:2130400-2131000	Enhancers	Spleen	Spleen
11	chr8:2130400-2131400	Enhancers	Pancreas	Pancrea
12	chr8:2130400-2131800	Enhancers	Fetal Thymus	thymus
13	chr8:2130400-2132000	Enhancers	Esophagus	oesophagus
14	chr8:2130400-2132000	Enhancers	Fetal Muscle Leg	muscle
15	chr8:2130400-2132400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:2130600-2131200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr8:2130600-2131400	Enhancers	Liver	Liver
18	chr8:2130600-2131400	Enhancers	Brain Hippocampus Middle	brain
19	chr8:2130600-2131800	Enhancers	Psoas Muscle	Psoas
20	chr8:2130600-2132000	Enhancers	Right Atrium	heart
21	chr8:2130800-2131000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:2130800-2131000	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr8:2130800-2131200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:2130800-2131400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:2130800-2131400	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:2130800-2131400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr8:2130800-2131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:2130800-2131600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:2130800-2131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:2130800-2132000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:2130800-2132000	Enhancers	Gastric	stomach

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