Variant report

Variant	rs9951631
Chromosome Location	chr18:28741907-28741908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16961408	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2118344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420206	0.94[MEX][hapmap]
rs7235472	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs72912912	0.81[EUR][1000 genomes]
rs72930455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8091932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9946313	0.81[EUR][1000 genomes]
rs9956904	0.86[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9959257	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9960586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv132191	chr18:28739028-28745912	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv131242	chr18:28739028-28748058	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr18:28730600-28742600	Weak transcription	Esophagus	oesophagus
2	chr18:28733400-28742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr18:28737400-28746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:28737600-28742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr18:28737600-28742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:28737600-28742200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:28737600-28742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:28737800-28742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:28738000-28742200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:28741400-28742200	Enhancers	HMEC	breast
11	chr18:28741400-28742200	Enhancers	NHEK	skin
12	chr18:28741400-28742800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr18:28741400-28743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:28741400-28743200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr18:28741400-28743200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr18:28741600-28742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:28741800-28742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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