Variant report

Variant	rs56675350
Chromosome Location	chr8:68289938-68289939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11987016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991868	1.00[AMR][1000 genomes]
rs11996976	1.00[AMR][1000 genomes]
rs16933261	1.00[AMR][1000 genomes]
rs55890263	1.00[AMR][1000 genomes]
rs56115531	1.00[AMR][1000 genomes]
rs56171881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56322915	1.00[AMR][1000 genomes]
rs60435775	1.00[AMR][1000 genomes]
rs6987385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691320	1.00[AMR][1000 genomes]
rs73691326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693157	1.00[AMR][1000 genomes]
rs73693186	1.00[AMR][1000 genomes]
rs7815839	1.00[AMR][1000 genomes]
rs7820540	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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68282000-68293000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:68283000-68292400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:68283200-68292400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:68283400-68314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:68285200-68292800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:68287200-68290400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:68287200-68292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:68289200-68292800	Weak transcription	Gastric	stomach
9	chr8:68289600-68290200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:68289600-68290200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:68289600-68290200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:68289800-68292400	Weak transcription	Primary B cells from cord blood	blood

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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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