Variant report

Variant	rs11227314
Chromosome Location	chr11:65589174-65589175
allele	A/G
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	chr11:65587777..65590458-chr11:65595251..65598434,3	MCF-7	breast:
2	chr11:65484705..65486413-chr11:65588483..65590495,2	K562	blood:
3	chr11:65478558..65482535-chr11:65584117..65589770,6	MCF-7	breast:
4	chr11:65545110..65546921-chr11:65587302..65589568,2	MCF-7	breast:
5	chr11:65530380..65532206-chr11:65588206..65590140,2	K562	blood:
6	chr11:65588360..65590030-chr11:65596482..65598288,2	MCF-7	breast:
7	chr11:65478815..65481669-chr11:65588844..65590802,2	K562	blood:
8	chr11:65588417..65591084-chr11:65617236..65619160,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10896056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227306	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227310	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227315	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800497	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35138525	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102454	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928652	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971481	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11227314	CTSW	cis	Whole Blood	GTEx
rs11227314	SNX32	cis	Esophagus Muscularis	GTEx
rs11227314	CTSW	cis	lung	GTEx
rs11227314	CTSW	cis	Thyroid	GTEx
rs11227314	SNX32	cis	Artery Aorta	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65585800-65600200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:65585800-65600600	Weak transcription	Small Intestine	intestine
3	chr11:65586000-65591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65586200-65590200	Enhancers	Fetal Intestine Large	intestine
5	chr11:65586200-65594400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:65587200-65590000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:65587400-65589200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:65587400-65590000	Enhancers	Fetal Intestine Small	intestine
9	chr11:65587600-65590000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:65587800-65589200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:65588000-65589200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:65588400-65591400	Enhancers	Colonic Mucosa	Colon
13	chr11:65588600-65589200	Enhancers	Stomach Mucosa	stomach
14	chr11:65588600-65589200	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr11:65588600-65589600	Enhancers	Fetal Kidney	kidney
16	chr11:65588800-65590600	Weak transcription	Liver	Liver
17	chr11:65589000-65590200	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:65589000-65590600	Weak transcription	Pancreas	Pancrea
19	chr11:65589000-65590800	Weak transcription	Gastric	stomach
20	chr11:65589000-65594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:65589000-65594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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