Variant report

Variant	rs365943
Chromosome Location	chr11:5497799-5497800
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5494329..5498413-chr11:5524095..5528083,5	K562	blood:
2	chr11:5497451..5498014-chr11:5829478..5830015,2	MCF-7	breast:
3	chr11:5497248..5498209-chr11:5574259..5575206,2	MCF-7	breast:
4	chr11:5492428..5495809-chr11:5496479..5499256,6	K562	blood:
5	chr11:5402164..5402741-chr11:5497230..5497968,2	MCF-7	breast:
6	chr11:5497160..5498060-chr11:5733696..5734321,2	MCF-7	breast:
7	chr11:5497034..5498024-chr11:5574302..5575107,2	K562	blood:
8	chr11:5497566..5498122-chr11:5575583..5576306,2	MCF-7	breast:
9	chr11:5495902..5498056-chr11:5528624..5530826,2	K562	blood:
10	chr11:5495751..5498334-chr11:5524095..5527159,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167355	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000213931	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10768978	0.92[CEU][hapmap];0.95[CHD][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10768980	0.92[CEU][hapmap];0.98[CHD][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838167	0.86[CHB][hapmap]
rs10838168	0.83[ASN][1000 genomes]
rs12283559	0.81[CEU][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs2340353	0.81[CEU][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs2647543	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2879746	0.84[ASN][1000 genomes]
rs2975555	0.85[ASN][1000 genomes]
rs366257	0.82[CHD][hapmap]
rs404280	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.91[ASN][1000 genomes]
rs416948	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs430252	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs437519	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs438996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs449825	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs449937	0.82[CHD][hapmap]
rs454465	0.82[CHD][hapmap]
rs7106553	0.92[CEU][hapmap];0.95[CHD][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106927	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925620	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv896938	chr11:5484249-5505149	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
6	nsv467669	chr11:5487596-5497799	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv553239	chr11:5487596-5497799	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	nsv1047754	chr11:5489195-5506034	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs365943	UBQLNL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5497600-5498600	Genic enhancers	K562	blood

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