Variant report

Variant	rs990234
Chromosome Location	chr12:72398117-72398118
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	chr12:72392745..72395338-chr12:72397148..72399546,3	K562	blood:
2	chr12:72394007..72396109-chr12:72397408..72399339,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1007023	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs10784944	0.83[CEU][hapmap]
rs1386489	0.83[CEU][hapmap]
rs1386496	0.83[CEU][hapmap]
rs1386497	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs1473473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1487276	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1487281	0.91[CEU][hapmap]
rs1843809	0.83[CEU][hapmap]
rs1843812	0.91[CEU][hapmap]
rs2046582	0.85[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs2367899	0.85[CEU][hapmap]
rs4760749	0.82[YRI][hapmap]
rs4760751	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs4760814	0.85[CEU][hapmap]
rs4760818	0.85[CEU][hapmap];0.86[YRI][hapmap]
rs6582081	0.83[CEU][hapmap]
rs7299582	0.83[CEU][hapmap]
rs7300490	0.85[CEU][hapmap]
rs7310090	0.80[AFR][1000 genomes]
rs7954568	0.84[CEU][hapmap]
rs7963226	0.91[CEU][hapmap]
rs990235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3488908	chr12:72397674-72398414	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3502573	chr12:72397700-72398422	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3502577	chr12:72397716-72398393	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3502576	chr12:72397721-72398348	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv3488886	chr12:72397726-72398384	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv3488864	chr12:72397730-72398325	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv3488897	chr12:72397738-72398358	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	esv3502575	chr12:72397749-72398360	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
13	esv3502572	chr12:72397750-72398361	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	esv3280	chr12:72397767-72398375	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
15	esv3488875	chr12:72397793-72398314	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
16	esv3502571	chr12:72397803-72398313	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
17	esv3488919	chr12:72397807-72398311	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
18	esv3502578	chr12:72397807-72398311	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72397800-72398200	Enhancers	Fetal Lung	lung
2	chr12:72397800-72400800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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