Variant report

Variant	rs11227303
Chromosome Location	chr11:65564926-65564927
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	CTCF	chr11:65564664-65565005	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:65564857-65565347	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:
2	chr11:65562689..65566411-chr11:65620359..65624603,6	K562	blood:
3	chr11:65546923..65549109-chr11:65560977..65565317,4	K562	blood:
4	chr11:65563461..65568166-chr11:65728932..65730847,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255404	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10896043	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11227288	0.80[EUR][1000 genomes]
rs11227302	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12273982	0.85[EUR][1000 genomes]
rs12287832	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs494003	0.90[EUR][1000 genomes]
rs578056	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
4	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
5	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65562000-65565600	Weak transcription	HMEC	breast
7	chr11:65562200-65566200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:65562600-65565400	Strong transcription	Fetal Intestine Large	intestine
9	chr11:65562800-65568600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:65563000-65566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:65563200-65565000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:65563400-65566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:65563400-65567600	Weak transcription	Gastric	stomach
14	chr11:65563400-65576200	Weak transcription	Pancreas	Pancrea
15	chr11:65563800-65566200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:65563800-65566800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:65563800-65566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:65563800-65571000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:65564000-65565200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:65564000-65566000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:65564000-65566600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:65564200-65565200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:65564200-65566800	Enhancers	Placenta	Placenta
24	chr11:65564400-65565000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:65564400-65565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:65564400-65565200	Weak transcription	Colonic Mucosa	Colon
27	chr11:65564400-65565600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65564600-65565200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:65564600-65565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:65564800-65565200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:65564800-65565600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:65564800-65565600	Genic enhancers	Esophagus	oesophagus
33	chr11:65564800-65565600	Strong transcription	Fetal Intestine Small	intestine

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