Variant report

Variant	rs28699490
Chromosome Location	chr8:35609248-35609249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10095118	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10101908	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10108043	0.99[ASN][1000 genomes]
rs10112124	0.89[AFR][1000 genomes]
rs11997398	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12681866	0.98[ASN][1000 genomes]
rs1347609	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28432136	0.94[ASN][1000 genomes]
rs28459520	1.00[ASN][1000 genomes]
rs4295659	0.82[ASN][1000 genomes]
rs4538874	1.00[ASN][1000 genomes]
rs6468340	0.94[ASN][1000 genomes]
rs7833421	0.99[ASN][1000 genomes]
rs9656774	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2754662	chr8:35558658-35648958	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032540	chr8:35565491-35949132	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35576000-35631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:35582000-35640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:35591600-35611800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:35591800-35611200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:35591800-35611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:35595200-35609400	Weak transcription	Fetal Kidney	kidney
7	chr8:35597800-35612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:35598800-35611400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:35598800-35611800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:35600400-35609800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:35603200-35624800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:35606600-35610400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:35607000-35609600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:35607000-35609800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:35607400-35624400	Weak transcription	Fetal Brain Female	brain
16	chr8:35608000-35609800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:35608000-35610000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:35608000-35610400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:35608000-35610600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:35608200-35609800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:35608800-35610000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:35608800-35610400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:35608800-35611000	Enhancers	Fetal Heart	heart
24	chr8:35609000-35610200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:35609000-35610400	Enhancers	NH-A	brain
26	chr8:35609000-35610600	Enhancers	Brain Angular Gyrus	brain
27	chr8:35609200-35609400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:35609200-35609400	Bivalent/Poised TSS	Aorta	Aorta
29	chr8:35609200-35609800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:35609200-35610000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:35609200-35610000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:35609200-35610000	Enhancers	Ovary	ovary
33	chr8:35609200-35610200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:35609200-35610800	Enhancers	Fetal Lung	lung

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