Variant report

Variant	rs95492
Chromosome Location	chr5:14655923-14655924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14654188..14656036-chr5:14656686..14658192,2	MCF-7	breast:
2	chr5:14654818..14657661-chr5:14662686..14665477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13189930	0.81[JPT][hapmap]
rs149181	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs149617	0.87[JPT][hapmap]
rs152788	0.93[JPT][hapmap]
rs153829	0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153830	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166127	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183681	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1875513	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2455402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs250435	0.96[ASN][1000 genomes]
rs250440	0.87[JPT][hapmap]
rs250862	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs251496	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258290	0.81[JPT][hapmap]
rs258374	0.88[JPT][hapmap]
rs25945	0.83[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs25951	0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs25952	0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs25986	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs25987	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs25988	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs25992	0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs26307	0.93[JPT][hapmap]
rs27356	0.81[JPT][hapmap]
rs27882	0.93[ASN][1000 genomes]
rs27911	0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs28004	0.83[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs31919	0.94[ASN][1000 genomes]
rs31920	0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs31921	0.92[ASN][1000 genomes]
rs31922	0.87[JPT][hapmap]
rs31923	0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs31925	0.93[JPT][hapmap]
rs31926	0.83[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs31928	0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs31929	0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs31930	0.83[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs31968	0.93[JPT][hapmap]
rs3866215	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs40578	0.94[ASN][1000 genomes]
rs42358	0.83[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs42410	0.93[ASN][1000 genomes]
rs42681	0.83[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs456180	0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459467	0.92[ASN][1000 genomes]
rs466880	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4702043	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6554856	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs6872954	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs745328	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv528770	chr5:14655699-14657062	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14655200-14657000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:14655200-14663800	Weak transcription	Pancreas	Pancrea
3	chr5:14655400-14656000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:14655600-14656600	Weak transcription	GM12878-XiMat	blood
5	chr5:14655600-14659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:14655600-14659800	Weak transcription	NHEK	skin
7	chr5:14655600-14661200	Weak transcription	Primary T cells from cord blood	blood
8	chr5:14655600-14663400	Weak transcription	Fetal Thymus	thymus
9	chr5:14655800-14663000	Weak transcription	Dnd41	blood

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