Variant report

Variant	rs316187
Chromosome Location	chr5:96430832-96430833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96425190..96428341-chr5:96429686..96433552,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10043135	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs11739416	0.85[ASN][1000 genomes]
rs11739448	0.85[ASN][1000 genomes]
rs11749186	0.85[ASN][1000 genomes]
rs11958159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154242	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13167931	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173677	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs172723	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs172725	0.82[ASN][1000 genomes]
rs186414	0.84[ASN][1000 genomes]
rs221970	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2544775	0.80[ASN][1000 genomes]
rs316179	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316181	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316182	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316188	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316189	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316202	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs316208	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs316211	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs316216	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316220	0.89[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs316221	0.95[ASN][1000 genomes]
rs316222	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316225	0.84[ASN][1000 genomes]
rs316226	0.87[ASN][1000 genomes]
rs316227	0.87[ASN][1000 genomes]
rs316228	0.87[ASN][1000 genomes]
rs316233	0.80[CEU][hapmap];0.94[TSI][hapmap]
rs316234	0.85[CEU][hapmap];0.91[TSI][hapmap]
rs7704410	0.90[EUR][1000 genomes];0.89[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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96426400-96437200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:96428200-96432600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:96428400-96440000	Weak transcription	K562	blood
5	chr5:96429000-96432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:96429200-96431000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:96429200-96431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:96429400-96431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:96430000-96434600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:96430200-96431000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:96430200-96431200	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:96430200-96432800	Strong transcription	Primary B cells from cord blood	blood
13	chr5:96430400-96431200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:96430400-96431400	Enhancers	Dnd41	blood
15	chr5:96430600-96431000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:96430600-96431200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:96430600-96432200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:96430600-96438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:96430800-96431400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:96430800-96434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:96430800-96438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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