Variant report

Variant	rs10093420
Chromosome Location	chr8:39712812-39712813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10112921	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28445172	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34907746	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3824259	0.84[AFR][1000 genomes]
rs6474179	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6474181	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474182	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474185	0.83[EUR][1000 genomes]
rs6474189	0.87[AFR][1000 genomes]
rs66959906	0.95[ASN][1000 genomes]
rs6984521	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6989075	0.82[EUR][1000 genomes]
rs6991978	0.96[ASN][1000 genomes]
rs6998587	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004950	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7012629	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463448	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7825536	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839240	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39704800-39717800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:39707400-39717400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:39711600-39713200	Weak transcription	HepG2	liver
4	chr8:39711800-39717000	Weak transcription	HUVEC	blood vessel
5	chr8:39712200-39713400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:39712200-39713400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:39712400-39713400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:39712400-39713400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:39712400-39713400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:39712400-39713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:39712400-39713600	Enhancers	Fetal Intestine Small	intestine
12	chr8:39712600-39713400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:39712600-39713400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:39712600-39713600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:39712800-39713200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:39712800-39713400	Enhancers	Small Intestine	intestine
17	chr8:39712800-39713600	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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