Variant report

Variant	rs9948830
Chromosome Location	chr18:28741491-28741492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1550236	1.00[AMR][1000 genomes]
rs16961029	1.00[AMR][1000 genomes]
rs28670277	1.00[AMR][1000 genomes]
rs56032720	1.00[AMR][1000 genomes]
rs56143587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57174821	1.00[AMR][1000 genomes]
rs6506888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6650636	1.00[AMR][1000 genomes]
rs7239723	0.89[YRI][hapmap]
rs73406930	0.87[AFR][1000 genomes]
rs73406952	1.00[AMR][1000 genomes]
rs73408320	1.00[AMR][1000 genomes]
rs73408895	1.00[AMR][1000 genomes]
rs73411004	1.00[AMR][1000 genomes]
rs8093017	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9944812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9946032	1.00[AMR][1000 genomes]
rs9948334	1.00[AMR][1000 genomes]
rs9948904	1.00[AMR][1000 genomes]
rs9961104	1.00[AMR][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:18 , 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	chr18:28737800-28741600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:28737800-28742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28738000-28742200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:28740200-28741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:28740800-28741800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:28741400-28742200	Enhancers	HMEC	breast
14	chr18:28741400-28742200	Enhancers	NHEK	skin
15	chr18:28741400-28742800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr18:28741400-28743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:28741400-28743200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr18:28741400-28743200	Active TSS	Primary T killer naive cells fromperipheralblood	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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