Variant report

Variant	rs6469306
Chromosome Location	chr8:89247902-89247903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10107227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12550743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464280	1.00[EUR][1000 genomes]
rs1519935	1.00[AMR][1000 genomes]
rs1519936	1.00[EUR][1000 genomes]
rs1879200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2337520	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28904610	1.00[EUR][1000 genomes]
rs6469296	1.00[AMR][1000 genomes]
rs6982189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992279	1.00[EUR][1000 genomes]
rs7010490	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815828	1.00[AMR][1000 genomes]
rs7833482	1.00[AMR][1000 genomes]
rs7841851	1.00[AMR][1000 genomes]
rs939277	1.00[AMR][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:18 , 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	chr8:89243400-89254400	Weak transcription	Osteobl	bone
6	chr8:89243800-89250000	Weak transcription	NHDF-Ad	bronchial
7	chr8:89243800-89252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:89245800-89250000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:89246000-89252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:89246000-89254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:89246000-89254800	Weak transcription	Fetal Lung	lung
12	chr8:89246000-89255400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:89247000-89252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:89247200-89252200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:89247200-89255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:89247400-89255600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:89247600-89248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:89247600-89250200	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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