Variant report

Variant	rs2631030
Chromosome Location	chr8:91912075-91912076
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:21)

rs_ID	r²[population]
rs1003996	0.90[ASN][1000 genomes]
rs1011254	0.98[ASN][1000 genomes]
rs12675931	0.99[ASN][1000 genomes]
rs1386111	0.83[ASN][1000 genomes]
rs1386112	0.98[ASN][1000 genomes]
rs1542666	0.88[ASN][1000 genomes]
rs2129261	0.83[ASN][1000 genomes]
rs2255173	0.82[ASN][1000 genomes]
rs2339289	0.89[ASN][1000 genomes]
rs2339291	0.87[ASN][1000 genomes]
rs2631012	0.98[ASN][1000 genomes]
rs2631014	0.98[ASN][1000 genomes]
rs2631017	0.83[ASN][1000 genomes]
rs2631024	0.84[ASN][1000 genomes]
rs2631033	0.92[ASN][1000 genomes]
rs2677573	0.87[ASN][1000 genomes]
rs2677580	0.87[ASN][1000 genomes]
rs2740782	0.83[ASN][1000 genomes]
rs2740795	0.90[ASN][1000 genomes]
rs2740799	0.94[ASN][1000 genomes]
rs7018395	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91903600-91912200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:91903600-91912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:91908200-91916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:91908200-91916000	Weak transcription	Fetal Lung	lung
5	chr8:91908400-91912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:91908400-91913600	Weak transcription	Brain Angular Gyrus	brain
7	chr8:91910000-91912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:91910800-91912600	Enhancers	HMEC	breast
9	chr8:91911000-91913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:91911000-91914000	Enhancers	Liver	Liver
11	chr8:91911400-91912800	Enhancers	HepG2	liver
12	chr8:91911600-91925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:91911600-91926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:91911800-91913200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:91911800-91914200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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