Variant report

Variant	rs534052
Chromosome Location	chr11:64463237-64463238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	11:64207610-64216678..11:64460470-64464888	K562	blood:
2	chr11:64462910..64463439-chr11:64503972..64504566,2	MCF-7	breast:
3	chr11:64454221..64456529-chr11:64460067..64463247,3	MCF-7	breast:
4	chr11:64051823..64053324-chr11:64462184..64464955,2	MCF-7	breast:
5	chr11:64462282..64464474-chr11:64465946..64467595,2	K562	blood:
6	chr11:64455208..64457663-chr11:64463168..64465693,2	K562	blood:
7	chr11:64462578..64464474-chr11:64465778..64467595,2	K562	blood:
8	chr11:64461004..64463360-chr11:64511216..64513229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000002330	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000181908	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10751011	1.00[MEX][hapmap]
rs11231806	1.00[TSI][hapmap]
rs11231865	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11231892	1.00[MEX][hapmap]
rs11821081	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1212539	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1212851	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280878	1.00[TSI][hapmap]
rs12294207	1.00[MEX][hapmap]
rs17146100	1.00[AMR][1000 genomes]
rs17146110	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17146119	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17159320	1.00[MEX][hapmap]
rs17159321	1.00[MEX][hapmap]
rs1787671	1.00[AMR][1000 genomes]
rs2022048	1.00[TSI][hapmap]
rs2022049	0.85[AMR][1000 genomes]
rs2518908	1.00[AMR][1000 genomes]
rs2666561	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs2666562	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2904961	1.00[AMR][1000 genomes]
rs2959651	1.00[AMR][1000 genomes]
rs3016758	0.80[AFR][1000 genomes]
rs3016759	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41323046	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs475704	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs512926	0.82[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs516041	1.00[AMR][1000 genomes]
rs534073	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534221	0.82[MKK][hapmap]
rs535606	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545819	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs546323	1.00[AMR][1000 genomes]
rs547280	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs550930	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs553618	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs559095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559977	1.00[AMR][1000 genomes]
rs565688	0.83[AMR][1000 genomes]
rs573545	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591863	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs73492134	1.00[AMR][1000 genomes]
rs73492139	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492140	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492144	1.00[AMR][1000 genomes]
rs7927181	1.00[TSI][hapmap]
rs7948607	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948832	1.00[TSI][hapmap]
rs9326434	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9666331	1.00[MEX][hapmap];1.00[TSI][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	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs534052	SF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64460000-64464200	Enhancers	Fetal Brain Male	brain
2	chr11:64461200-64463600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:64461400-64463600	Enhancers	Brain Anterior Caudate	brain
4	chr11:64461400-64463600	Enhancers	Brain Substantia Nigra	brain
5	chr11:64462400-64464800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64462600-64463400	Enhancers	Fetal Brain Female	brain
7	chr11:64462800-64463600	Enhancers	Brain Germinal Matrix	brain
8	chr11:64462800-64465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:64463000-64468000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:64463200-64463400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:64463200-64464800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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