Variant report

Variant	rs67901563
Chromosome Location	chr11:65557033-65557034
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	PAX5	chr11:65557007-65557167	GM12878	blood:	n/a	chr11:65557101-65557119 chr11:65557103-65557120 chr11:65557110-65557119 chr11:65557024-65557042
2	PAX5	chr11:65556965-65557218	GM12878	blood:	n/a	chr11:65557101-65557119 chr11:65557103-65557120 chr11:65557110-65557119 chr11:65557024-65557042
3	TEAD4	chr11:65556959-65557415	ECC-1	luminal epithelium:	n/a	chr11:65557212-65557221
4	PAX5	chr11:65556886-65557312	GM12878	blood:	n/a	chr11:65557101-65557119 chr11:65557103-65557120 chr11:65557110-65557119 chr11:65557024-65557042
5	PAX5	chr11:65556914-65557233	GM12878	blood:	n/a	chr11:65557101-65557119 chr11:65557103-65557120 chr11:65557110-65557119 chr11:65557024-65557042
6	TCF12	chr11:65556854-65557390	ECC-1	luminal epithelium:	n/a	chr11:65557340-65557348 chr11:65557126-65557133

No.	Distal block	Cell Line	Cell type
1	chr11:65478230..65480937-chr11:65556981..65559484,3	MCF-7	breast:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
4	chr11:65556556..65561389-chr11:65623769..65628916,7	MCF-7	breast:
5	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
6	chr11:65479191..65479739-chr11:65556928..65557616,2	MCF-7	breast:
7	chr11:65556531..65558931-chr11:65624353..65626096,2	K562	blood:
8	chr11:65479410..65482518-chr11:65556440..65559162,4	MCF-7	breast:
9	chr11:65477923..65479953-chr11:65556662..65559648,2	K562	blood:
10	chr11:65545987..65548666-chr11:65554230..65557097,2	K562	blood:
11	chr11:65546169..65552016-chr11:65555022..65558350,9	K562	blood:

Variant related genes	Relation type
OVOL1	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11600035	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603206	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802560	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509162	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36008241	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491666	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs501337	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523521	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs530405	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs553980	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs554863	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56164300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601683	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604949	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67995174	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71197355	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv897760	chr11:65545306-65559266	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
2	chr11:65555600-65557200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
3	chr11:65555800-65558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:65555800-65558800	Weak transcription	Right Atrium	heart
5	chr11:65555800-65562000	Enhancers	HMEC	breast
6	chr11:65556000-65558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65556000-65558600	Enhancers	Gastric	stomach
8	chr11:65556000-65558800	Weak transcription	Lung	lung
9	chr11:65556000-65559400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:65556000-65562000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:65556200-65557200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:65556200-65557400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr11:65556200-65557600	Active TSS	Colonic Mucosa	Colon
14	chr11:65556200-65557800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:65556200-65558200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr11:65556200-65558200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
17	chr11:65556200-65561600	Enhancers	Pancreas	Pancrea
18	chr11:65556400-65557200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr11:65556400-65557200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr11:65556400-65557200	Bivalent Enhancer	HepG2	liver
21	chr11:65556400-65557400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr11:65556400-65558000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:65556400-65561600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:65556400-65561800	Enhancers	Stomach Mucosa	stomach
25	chr11:65556600-65557400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:65556600-65558200	Bivalent Enhancer	Placenta	Placenta
27	chr11:65556600-65558400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:65556800-65557200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:65556800-65557400	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:65557000-65557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:65557000-65557200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:65557000-65557200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:65557000-65557200	Flanking Active TSS	Fetal Kidney	kidney
34	chr11:65557000-65557400	Enhancers	GM12878-XiMat	blood
35	chr11:65557000-65557800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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