Variant report

Variant	rs17132044
Chromosome Location	chr7:48076228-48076229
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:17)

rs_ID	r²[population]
rs10268347	1.00[MEX][hapmap]
rs10279520	1.00[MEX][hapmap]
rs10499671	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974279	1.00[EUR][1000 genomes]
rs11975785	1.00[MEX][hapmap]
rs11984025	1.00[EUR][1000 genomes]
rs16881659	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132019	1.00[EUR][1000 genomes]
rs17132020	1.00[EUR][1000 genomes]
rs17132030	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132033	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132037	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1915970	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3176609	1.00[MEX][hapmap]
rs73337813	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7795264	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:48075000-48076400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:48075000-48076400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:48075800-48076400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:48076000-48076400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:48076000-48076400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr7:48076000-48076400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:48076000-48076600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr7:48076200-48076400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr7:48076200-48076400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr7:48076200-48076600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr7:48076200-48079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:48076200-48079600	Weak transcription	HMEC	breast
13	chr7:48076200-48079600	Weak transcription	NHEK	skin
14	chr7:48076200-48080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:48076200-48080800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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