Variant report

Variant	rs10094254
Chromosome Location	chr8:89246319-89246320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10092380	0.94[ASN][1000 genomes]
rs10094119	0.94[ASN][1000 genomes]
rs10094255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546847	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547891	0.83[EUR][1000 genomes]
rs12548164	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12682181	0.94[ASN][1000 genomes]
rs13251664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254181	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261150	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16879968	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16880086	0.94[ASN][1000 genomes]
rs16880099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879199	0.86[EUR][1000 genomes]
rs1949530	0.94[ASN][1000 genomes]
rs2030346	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2337519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28527305	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28731145	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34409795	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35474420	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961082	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983817	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6990910	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7816422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825130	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825629	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826477	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89239000-89260800	Weak transcription	Aorta	Aorta
2	chr8:89240200-89254800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:89240400-89254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:89241400-89248800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:89243400-89246400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:89243400-89254400	Weak transcription	Osteobl	bone
7	chr8:89243800-89247600	Enhancers	Fetal Intestine Large	intestine
8	chr8:89243800-89250000	Weak transcription	NHDF-Ad	bronchial
9	chr8:89243800-89252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:89245400-89247200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:89245400-89247200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:89245400-89247600	Enhancers	Fetal Intestine Small	intestine
13	chr8:89245600-89246600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:89245600-89247000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:89245800-89250000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:89246000-89247000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:89246000-89252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:89246000-89254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:89246000-89254800	Weak transcription	Fetal Lung	lung
20	chr8:89246000-89255400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:89246200-89246600	Weak transcription	Fetal Kidney	kidney
22	chr8:89246200-89247400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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