Variant report

Variant	rs72922786
Chromosome Location	chr11:65562852-65562853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65551696..65553777-chr11:65562013..65564216,2	K562	blood:
2	chr11:65429991..65432005-chr11:65562169..65564755,2	K562	blood:
3	chr11:65562689..65566411-chr11:65620359..65624603,6	K562	blood:
4	chr11:65546923..65549109-chr11:65560977..65565317,4	K562	blood:
5	chr11:65479281..65481159-chr11:65560377..65563374,2	K562	blood:
6	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173039	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000255404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896044	0.85[EUR][1000 genomes]
rs3897552	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3953806	0.85[EUR][1000 genomes]
rs44205	0.83[ASN][1000 genomes]
rs56257941	0.85[EUR][1000 genomes]
rs663797	0.89[EUR][1000 genomes]
rs72922791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	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	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65557400-65563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:65558000-65564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65558200-65564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
7	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
8	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65560600-65564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:65560800-65564600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:65561000-65563600	Strong transcription	Placenta	Placenta
12	chr11:65561400-65563600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:65561400-65563800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:65561600-65564000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr11:65561800-65563000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:65561800-65563400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:65561800-65564200	Weak transcription	Stomach Mucosa	stomach
18	chr11:65561800-65564400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:65562000-65563400	Strong transcription	Pancreas	Pancrea
20	chr11:65562000-65563800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:65562000-65564200	Strong transcription	Colonic Mucosa	Colon
22	chr11:65562000-65564400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:65562000-65565600	Weak transcription	HMEC	breast
24	chr11:65562200-65563200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65562200-65563400	Strong transcription	Gastric	stomach
26	chr11:65562200-65564400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:65562200-65566200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:65562600-65563400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:65562600-65564200	Strong transcription	Fetal Intestine Small	intestine
30	chr11:65562600-65564800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:65562600-65564800	Strong transcription	Esophagus	oesophagus
32	chr11:65562600-65565400	Strong transcription	Fetal Intestine Large	intestine
33	chr11:65562800-65564200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:65562800-65568600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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