Variant report

Variant	rs2126667
Chromosome Location	chr5:99379424-99379425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr5:99379199-99379571	GM12878	blood:	n/a	chr5:99379540-99379555
2	BATF	chr5:99379275-99379445	GM12878	blood:	n/a	n/a
3	ATF2	chr5:99379165-99379540	GM12878	blood:	n/a	n/a
4	NFATC1	chr5:99379133-99379583	GM12878	blood:	n/a	n/a
5	RUNX3	chr5:99379241-99379492	GM12878	blood:	n/a	n/a
6	NFIC	chr5:99379239-99379536	GM12878	blood:	n/a	n/a
7	NFIC	chr5:99379113-99379549	GM12878	blood:	n/a	n/a
8	MEF2C	chr5:99379113-99379538	GM12878	blood:	n/a	chr5:99379131-99379146
9	ATF2	chr5:99379244-99379565	GM12878	blood:	n/a	n/a
10	BATF	chr5:99379238-99379445	GM12878	blood:	n/a	n/a
11	MEF2A	chr5:99379075-99379578	GM12878	blood:	n/a	chr5:99379540-99379555 chr5:99379131-99379146
12	RUNX3	chr5:99379109-99379617	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270230	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038624	0.84[ASN][1000 genomes]
rs10054880	0.84[ASN][1000 genomes]
rs10061652	0.84[ASN][1000 genomes]
rs10067539	0.84[ASN][1000 genomes]
rs10478235	0.83[ASN][1000 genomes]
rs10515294	0.83[EUR][1000 genomes]
rs11241340	0.82[EUR][1000 genomes]
rs11241384	0.83[AMR][1000 genomes]
rs11948786	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13436493	0.83[EUR][1000 genomes]
rs1477673	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17164397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164401	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17164419	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17696519	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs2045845	0.83[AMR][1000 genomes]
rs2045846	0.83[AMR][1000 genomes]
rs2045847	0.81[AMR][1000 genomes]
rs2045848	0.81[AMR][1000 genomes]
rs2370424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703082	0.84[ASN][1000 genomes]
rs57824518	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66796078	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6880090	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72769531	0.82[EUR][1000 genomes]
rs72769548	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72769550	0.84[EUR][1000 genomes]
rs7706973	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730463	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735213	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735740	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3509855	chr5:98919847-99394935	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3509856	chr5:98919847-99394935	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1031945	chr5:98976665-99503539	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521463	chr5:99074392-99539933	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758006	chr5:99207674-99846255	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv882438	chr5:99279767-99600237	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1805126	chr5:99298081-99476578	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv830424	chr5:99298081-99476578	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv428118	chr5:99298081-99476578	Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1792320	chr5:99298081-99509439	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv432782	chr5:99304875-99446176	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv432783	chr5:99304875-99536420	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv882439	chr5:99306483-99387066	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv432784	chr5:99317040-99446176	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1031008	chr5:99317040-99448356	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1025183	chr5:99322292-99395055	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1023043	chr5:99322292-99446176	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1031609	chr5:99322292-99446756	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1026906	chr5:99322292-99448356	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv33013	chr5:99322707-99445769	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv599158	chr5:99324810-99379424	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv599159	chr5:99324810-99385107	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv599160	chr5:99324810-99390727	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv599161	chr5:99325303-99420600	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv517073	chr5:99331484-99387360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv599162	chr5:99331484-99387360	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv882440	chr5:99332696-99468680	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv882441	chr5:99362737-99465252	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv882442	chr5:99362737-99478428	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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