Variant report

Variant	rs2091086
Chromosome Location	chr7:85103671-85103672
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	PBX3	chr7:85103441-85104050	SK-N-SH	brain:	n/a	n/a
2	RXRA	chr7:85103586-85104110	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr7:85103286-85104182	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr7:85103319-85104128	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:85103120-85104278	SK-N-SH	brain:	n/a	chr7:85103233-85103243 chr7:85103340-85103350
6	TAF1	chr7:85103544-85103805	SK-N-SH	brain:	n/a	n/a
7	MEF2A	chr7:85103567-85103779	GM12878	blood:	n/a	chr7:85103746-85103760
8	EP300	chr7:85103588-85103924	SK-N-SH_RA	brain:	n/a	n/a
9	RXRA	chr7:85103453-85104142	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr7:85103287-85104362	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr7:85103375-85104225	SK-N-SH	brain:	n/a	n/a
12	FOXM1	chr7:85103511-85104029	SK-N-SH	brain:	n/a	n/a
13	JUND	chr7:85103429-85104225	SK-N-SH	brain:	n/a	n/a
14	MEF2A	chr7:85103390-85103988	SK-N-SH	brain:	n/a	chr7:85103746-85103760
15	MAX	chr7:85103500-85104036	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr7:85103374-85104015	GM12878	blood:	n/a	n/a
17	TCF12	chr7:85103121-85104197	SK-N-SH	brain:	n/a	n/a
18	RUNX3	chr7:85103462-85103865	GM12878	blood:	n/a	n/a
19	EBF1	chr7:85103572-85103885	GM12878	blood:	n/a	chr7:85103780-85103791
20	MEF2A	chr7:85103404-85104106	SK-N-SH	brain:	n/a	chr7:85103746-85103760
21	BATF	chr7:85103571-85103842	GM12878	blood:	n/a	chr7:85103811-85103820
22	JUND	chr7:85103357-85104120	SK-N-SH	brain:	n/a	n/a
23	JUND	chr7:85103326-85104222	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr7:85103091-85104267	SK-N-SH	brain:	n/a	n/a
25	FOXM1	chr7:85103543-85103930	GM12878	blood:	n/a	n/a
26	EP300	chr7:85103255-85104221	SK-N-SH	brain:	n/a	chr7:85103932-85103946
27	ATF2	chr7:85103479-85103831	GM12878	blood:	n/a	n/a
28	EP300	chr7:85103555-85103859	SK-N-SH_RA	brain:	n/a	n/a
29	FOSL2	chr7:85103607-85104065	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr7:85103126-85104216	SK-N-SH	brain:	n/a	chr7:85103233-85103243 chr7:85103340-85103350
31	EP300	chr7:85103262-85104195	SK-N-SH	brain:	n/a	chr7:85103932-85103946
32	EP300	chr7:85103450-85104290	SK-N-SH	brain:	n/a	chr7:85103932-85103946
33	TEAD4	chr7:85103389-85104215	SK-N-SH	brain:	n/a	n/a
34	FOSL2	chr7:85103395-85104086	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr7:85103507-85104029	SK-N-SH	brain:	n/a	n/a
36	BATF	chr7:85103539-85103766	GM12878	blood:	n/a	n/a
37	MEF2A	chr7:85103546-85103882	GM12878	blood:	n/a	chr7:85103746-85103760

Variant related genes	Relation type
LINC00972	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10227200	0.93[EUR][1000 genomes]
rs10248169	0.93[EUR][1000 genomes]
rs10281723	0.93[EUR][1000 genomes]
rs10435248	0.84[EUR][1000 genomes]
rs1358539	0.90[EUR][1000 genomes]
rs1403789	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1464661	0.90[EUR][1000 genomes]
rs1528497	0.93[EUR][1000 genomes]
rs16887926	0.93[EUR][1000 genomes]
rs16887933	0.93[EUR][1000 genomes]
rs17159957	0.83[EUR][1000 genomes]
rs17160046	0.90[EUR][1000 genomes]
rs2140460	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2463683	0.90[EUR][1000 genomes]
rs2498539	0.90[EUR][1000 genomes]
rs28626881	0.93[EUR][1000 genomes]
rs6960755	0.90[EUR][1000 genomes]
rs73391596	0.93[EUR][1000 genomes]
rs7778332	0.93[EUR][1000 genomes]
rs7779253	0.83[EUR][1000 genomes]
rs7807771	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3327487	chr7:84901505-85320690	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888648	chr7:85055666-85117732	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv888649	chr7:85099898-85356773	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85101200-85109400	Weak transcription	NHLF	lung
2	chr7:85103400-85106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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