Variant report

Variant	rs7827931
Chromosome Location	chr8:39939381-39939382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1383602	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1904906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1904907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56275210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56409441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58305906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58536333	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59124739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59130673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60215074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61137308	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73617867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73617895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73617897	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73619620	0.90[AMR][1000 genomes]
rs7829020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39937800-39939800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:39938000-39939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:39938000-39939600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:39938000-39939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:39938200-39939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:39938200-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:39938200-39939800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:39938200-39939800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:39938400-39939600	Enhancers	Fetal Brain Female	brain
10	chr8:39938600-39939400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:39938800-39939400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:39938800-39939400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:39938800-39939400	Active TSS	Brain Angular Gyrus	brain
14	chr8:39938800-39939400	Enhancers	Fetal Intestine Small	intestine
15	chr8:39938800-39939400	Enhancers	Fetal Stomach	stomach
16	chr8:39938800-39939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:39939000-39939400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:39939000-39939400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:39939000-39939400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:39939000-39939400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:39939000-39939400	Enhancers	Adipose Nuclei	Adipose
22	chr8:39939000-39939400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:39939000-39939400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:39939000-39939400	Active TSS	Brain Substantia Nigra	brain
25	chr8:39939000-39939400	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:39939000-39939400	Enhancers	Fetal Intestine Large	intestine
27	chr8:39939000-39939400	Enhancers	Fetal Kidney	kidney
28	chr8:39939000-39939400	Flanking Active TSS	Fetal Lung	lung
29	chr8:39939000-39939400	Active TSS	Ovary	ovary
30	chr8:39939000-39939400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:39939000-39939400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:39939000-39939400	Active TSS	Right Atrium	heart
33	chr8:39939000-39939400	Active TSS	A549	lung
34	chr8:39939000-39939400	Flanking Active TSS	HepG2	liver
35	chr8:39939000-39939400	Active TSS	NHDF-Ad	bronchial
36	chr8:39939000-39939600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:39939000-39939600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:39939000-39939600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr8:39939000-39939600	Enhancers	Stomach Mucosa	stomach
41	chr8:39939000-39939600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:39939000-39939800	Active TSS	Brain Anterior Caudate	brain
43	chr8:39939200-39939400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:39939200-39939400	Flanking Active TSS	Aorta	Aorta
45	chr8:39939200-39939400	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr8:39939200-39939600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:39939200-39939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:39939200-39939600	Flanking Active TSS	Liver	Liver
49	chr8:39939200-39939600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr8:39939200-39939600	Active TSS	Duodenum Smooth Muscle	Duodenum

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