Variant report

Variant	rs72648872
Chromosome Location	chr17:45819581-45819582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45741724..45742280-chr17:45819394..45820344,2	K562	blood:
2	chr17:45819448..45824573-chr17:45826000..45830135,4	K562	blood:
3	chr17:45776082..45776797-chr17:45819318..45820257,2	MCF-7	breast:
4	chr17:45811192..45813329-chr17:45818442..45821780,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12721470	0.96[ASN][1000 genomes]
rs16946264	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244587	0.96[ASN][1000 genomes]
rs17699436	0.96[ASN][1000 genomes]
rs2325717	0.81[ASN][1000 genomes]
rs2875720	0.89[ASN][1000 genomes]
rs41515744	0.96[ASN][1000 genomes]
rs56336232	0.96[ASN][1000 genomes]
rs57570362	0.96[ASN][1000 genomes]
rs58606102	0.96[ASN][1000 genomes]
rs58805251	0.96[ASN][1000 genomes]
rs60156897	0.89[ASN][1000 genomes]
rs72648870	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667004	1.00[ASN][1000 genomes]
rs72831648	0.96[ASN][1000 genomes]
rs72831650	0.96[ASN][1000 genomes]
rs72831652	0.96[ASN][1000 genomes]
rs72831653	0.96[ASN][1000 genomes]
rs72831657	0.96[ASN][1000 genomes]
rs72831659	0.96[ASN][1000 genomes]
rs7342912	0.96[ASN][1000 genomes]
rs7342955	0.96[ASN][1000 genomes]
rs8076180	0.89[ASN][1000 genomes]
rs8076527	0.89[ASN][1000 genomes]
rs8077085	0.89[ASN][1000 genomes]
rs8080756	0.89[ASN][1000 genomes]
rs8081095	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
2	chr17:45814600-45819800	Weak transcription	Spleen	Spleen
3	chr17:45814600-45820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:45814600-45820000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:45816800-45820200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:45818200-45820400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr17:45818200-45820600	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:45818200-45820600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr17:45818400-45820600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:45818400-45820600	Enhancers	GM12878-XiMat	blood
11	chr17:45818600-45820400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:45819000-45820600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr17:45819200-45820000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:45819200-45820000	Bivalent Enhancer	HepG2	liver
15	chr17:45819200-45820200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:45819200-45820600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr17:45819200-45824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:45819400-45819600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr17:45819400-45819800	Weak transcription	Dnd41	blood
20	chr17:45819400-45820600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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