Variant report

Variant	rs1820170
Chromosome Location	chr5:88746203-88746204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88745543..88747237-chr5:88748817..88750936,2	K562	blood:
2	chr5:88737623..88740179-chr5:88745152..88747035,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10045921	0.81[AMR][1000 genomes]
rs1528589	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1645535	0.84[AMR][1000 genomes]
rs168689	0.80[AMR][1000 genomes]
rs173531	0.87[AMR][1000 genomes]
rs2011071	0.82[AMR][1000 genomes]
rs2011074	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031004	0.86[AMR][1000 genomes]
rs2365376	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2365377	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs247551	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs247552	0.83[AMR][1000 genomes]
rs247554	0.85[AMR][1000 genomes]
rs247559	0.85[AMR][1000 genomes]
rs247561	0.80[AMR][1000 genomes]
rs27764	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs32886	0.80[AMR][1000 genomes]
rs32887	0.87[AMR][1000 genomes]
rs32888	0.87[AMR][1000 genomes]
rs383242	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs399303	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4244203	0.84[AMR][1000 genomes]
rs454345	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4916751	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6892330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293515	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv598927	chr5:88647766-88780868	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv830389	chr5:88669984-88860383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882357	chr5:88677293-88774328	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
8	nsv882358	chr5:88677293-88776034	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
9	nsv882359	chr5:88710519-88785384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
10	nsv882360	chr5:88716714-88785384	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	esv1845994	chr5:88736275-88847756	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88739400-88752000	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:88740800-88752400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:88742600-88746600	Enhancers	Brain Germinal Matrix	brain
4	chr5:88744200-88746400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:88744200-88747800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:88744400-88747600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:88744600-88748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:88745400-88746400	Enhancers	Fetal Intestine Small	intestine
9	chr5:88745400-88746800	Enhancers	Primary B cells from cord blood	blood
10	chr5:88745600-88748400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:88746200-88746600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:88746200-88747800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:88746200-88748000	Weak transcription	GM12878-XiMat	blood
14	chr5:88746200-88748200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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