Variant report

Variant	rs12491967
Chromosome Location	chr3:85519695-85519696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
2	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1025531	0.82[YRI][hapmap]
rs1030721	0.82[YRI][hapmap]
rs11127890	0.82[YRI][hapmap]
rs11127891	0.82[AFR][1000 genomes]
rs11127892	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11127894	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12054398	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs12485813	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12486203	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs12486274	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12487474	0.90[EUR][1000 genomes]
rs12487886	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs12488750	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs12492689	0.90[EUR][1000 genomes]
rs12492923	0.90[EUR][1000 genomes]
rs12493440	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12493645	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs12494843	0.90[EUR][1000 genomes]
rs12495242	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs12496359	0.90[EUR][1000 genomes]
rs12633762	0.82[AFR][1000 genomes]
rs12636028	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12638154	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1368739	0.82[AFR][1000 genomes]
rs1368740	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs1821349	0.86[YRI][hapmap]
rs2100205	0.90[EUR][1000 genomes]
rs2117151	0.82[YRI][hapmap]
rs6767245	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs6767256	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs6767921	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs6791938	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs919874	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9309977	0.82[YRI][hapmap]
rs9309982	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs9819830	0.81[YRI][hapmap]
rs9838811	0.93[YRI][hapmap]
rs9880919	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1002238	chr3:85357855-85719373	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536619	chr3:85357855-85719373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590904	chr3:85438564-85551403	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv590905	chr3:85438564-85797093	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv998829	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv536622	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv526621	chr3:85470642-85667683	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1009512	chr3:85472690-85533487	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv536623	chr3:85472690-85533487	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1013601	chr3:85489536-85570465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv536624	chr3:85489536-85570465	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv1009927	chr3:85497666-85669155	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1010541	chr3:85505839-85870597	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv536625	chr3:85505839-85870597	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain

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