Variant report

Variant	rs2853149
Chromosome Location	chr8:105393021-105393022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11779762	0.85[CEU][hapmap]
rs12543989	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1317417	0.82[ASN][1000 genomes]
rs1355692	0.89[ASN][1000 genomes]
rs2334119	0.82[ASN][1000 genomes]
rs2458428	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2458429	0.93[ASN][1000 genomes]
rs2514674	0.94[ASN][1000 genomes]
rs2514675	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2669440	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2669442	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2669443	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2853134	0.90[ASN][1000 genomes]
rs2853135	0.90[ASN][1000 genomes]
rs2853136	0.90[ASN][1000 genomes]
rs2853138	0.94[ASN][1000 genomes]
rs2853139	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2853140	0.94[ASN][1000 genomes]
rs2853142	0.95[ASN][1000 genomes]
rs2853144	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2853148	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2853166	0.83[ASN][1000 genomes]
rs2853177	0.82[ASN][1000 genomes]
rs4734787	0.92[ASN][1000 genomes]
rs4734788	0.94[ASN][1000 genomes]
rs4734789	0.94[ASN][1000 genomes]
rs4734790	0.94[ASN][1000 genomes]
rs4734791	0.94[ASN][1000 genomes]
rs62510079	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr8:105381800-105393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:105388800-105394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105390400-105393400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:105390400-105421000	Strong transcription	Liver	Liver
5	chr8:105390600-105393400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:105390800-105393400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:105391200-105393400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:105391600-105393400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:105392400-105393600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:105392600-105394200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:105393000-105393400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:105393000-105394000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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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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