Variant report

Variant	rs28678551
Chromosome Location	chr8:89243644-89243645
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10091022	0.94[EUR][1000 genomes]
rs10099839	0.93[EUR][1000 genomes]
rs10104620	0.94[EUR][1000 genomes]
rs10110977	0.94[EUR][1000 genomes]
rs10113080	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13261169	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13264048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13439559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879913	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16880075	1.00[ASN][1000 genomes]
rs28649468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28904614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469298	0.96[EUR][1000 genomes]
rs7357573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7357575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7357576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821734	0.93[EUR][1000 genomes]
rs939280	0.98[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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891170	chr8:89227970-89298199	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89237000-89244200	Weak transcription	NH-A	brain
2	chr8:89239000-89260800	Weak transcription	Aorta	Aorta
3	chr8:89239400-89245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:89240200-89244600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:89240200-89245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:89240200-89254800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:89240400-89245400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:89240400-89245600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:89240400-89254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:89240600-89245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:89240800-89245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:89241200-89243800	Weak transcription	Fetal Intestine Large	intestine
13	chr8:89241400-89248800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:89242400-89243800	Enhancers	NHDF-Ad	bronchial
15	chr8:89242600-89245600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:89242800-89243800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:89243400-89246400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:89243400-89254400	Weak transcription	Osteobl	bone
19	chr8:89243600-89243800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:89243600-89243800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:89243600-89244400	Enhancers	Fetal Intestine Small	intestine

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