Variant report

Variant	rs6988434
Chromosome Location	chr8:65710070-65710071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55730348	1.00[EUR][1000 genomes]
rs6980478	0.85[LWK][hapmap];0.88[YRI][hapmap]
rs6994261	1.00[EUR][1000 genomes]
rs7003587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004523	1.00[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs73234094	1.00[EUR][1000 genomes]
rs73237705	1.00[EUR][1000 genomes]
rs73237734	1.00[EUR][1000 genomes]
rs73237742	1.00[EUR][1000 genomes]
rs73237746	1.00[EUR][1000 genomes]
rs73237756	1.00[EUR][1000 genomes]
rs73237764	1.00[EUR][1000 genomes]
rs73237765	1.00[EUR][1000 genomes]
rs73237766	1.00[EUR][1000 genomes]
rs73689571	1.00[EUR][1000 genomes]
rs7817370	1.00[EUR][1000 genomes]
rs7821719	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827701	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7832640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7833820	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9694711	1.00[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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65700000-65710600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:65706200-65710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:65707600-65712000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:65709400-65710200	Enhancers	Fetal Brain Male	brain
5	chr8:65709400-65710200	Enhancers	Fetal Lung	lung
6	chr8:65709400-65710200	Enhancers	Right Ventricle	heart
7	chr8:65709400-65711400	Active TSS	GM12878-XiMat	blood
8	chr8:65709600-65710200	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr8:65709600-65710800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr8:65709600-65711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:65709600-65711800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:65709600-65711800	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:65709800-65710200	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr8:65709800-65710200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:65709800-65710400	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr8:65709800-65710400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:65709800-65710600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:65709800-65710600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:65709800-65710600	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr8:65709800-65710600	Enhancers	Fetal Heart	heart
21	chr8:65709800-65710800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:65709800-65710800	Flanking Active TSS	Liver	Liver
23	chr8:65709800-65711000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:65709800-65711200	Active TSS	Fetal Muscle Trunk	muscle
25	chr8:65709800-65711400	Active TSS	Ovary	ovary
26	chr8:65709800-65711400	Active TSS	Right Atrium	heart
27	chr8:65709800-65711400	Active TSS	Stomach Smooth Muscle	stomach
28	chr8:65709800-65711800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr8:65709800-65712000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:65710000-65710200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:65710000-65710200	Enhancers	Fetal Stomach	stomach
32	chr8:65710000-65710200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:65710000-65710200	Bivalent Enhancer	Small Intestine	intestine
34	chr8:65710000-65710400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:65710000-65710400	Enhancers	Fetal Brain Female	brain
36	chr8:65710000-65710600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:65710000-65710600	Weak transcription	Esophagus	oesophagus
38	chr8:65710000-65710600	Weak transcription	Pancreas	Pancrea
39	chr8:65710000-65710800	Weak transcription	Gastric	stomach
40	chr8:65710000-65711600	Active TSS	Colon Smooth Muscle	Colon
41	chr8:65710000-65712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr8:65710000-65712000	Active TSS	Fetal Kidney	kidney

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