Variant report

Variant	rs58530946
Chromosome Location	chr11:67055482-67055483
allele	C/T
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	CEBPB	chr11:67055273-67056639	HCT-116	colon:	n/a	n/a
2	POLR2A	chr11:67055368-67057200	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr11:67054376-67056926	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
4	EBF1	chr11:67055478-67056397	GM12878	blood:	n/a	chr11:67056217-67056228 chr11:67056216-67056229 chr11:67056218-67056228 chr11:67056218-67056227
5	POLR2A	chr11:67054570-67056708	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
7	PML	chr11:67055458-67056537	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67054373-67057033	GM12878	blood:	n/a	n/a
9	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
10	POLR2A	chr11:67054758-67056683	U87	brain:	n/a	n/a
11	ELF1	chr11:67055426-67057047	GM12878	blood:	n/a	chr11:67056493-67056506
12	POLR2A	chr11:67054191-67056657	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:67054024-67056735	GM12878	blood:	n/a	n/a
14	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
15	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
16	MYC	chr11:67055333-67056984	A549	lung:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
17	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	n/a	n/a
18	HCFC1	chr11:67055314-67057493	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:67054389-67057085	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
21	STAT5A	chr11:67054949-67056420	GM12878	blood:	n/a	chr11:67055846-67055858 chr11:67055101-67055113 chr11:67055396-67055408 chr11:67055148-67055160
22	POLR2A	chr11:67054567-67057059	ECC-1	luminal epithelium:	n/a	n/a
23	FOXM1	chr11:67055270-67056790	GM12878	blood:	n/a	n/a
24	CEBPB	chr11:67055459-67056626	A549	lung:	n/a	n/a
25	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
26	POLR2A	chr11:67054841-67057644	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
28	BCL3	chr11:67055403-67056543	A549	lung:	n/a	chr11:67055795-67055804 chr11:67055465-67055473
29	MAX	chr11:67055399-67056746	HCT-116	colon:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
30	POLR2A	chr11:67054122-67056980	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:67052359-67056719	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:67053151-67056654	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:67055447-67056552	HepG2	liver:	n/a	n/a
34	MXI1	chr11:67055332-67057861	IMR90	lung:	n/a	n/a
35	POU2F2	chr11:67054515-67056662	GM12891	blood:	n/a	n/a
36	POU2F2	chr11:67054744-67056723	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:67054491-67056726	K562	blood:	n/a	n/a
38	POLR2A	chr11:67055432-67056718	K562	blood:	n/a	n/a
39	MAX	chr11:67055469-67057486	MCF-7	breast:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
40	STAT5A	chr11:67054484-67056692	GM12878	blood:	n/a	chr11:67055846-67055858 chr11:67055101-67055113 chr11:67055396-67055408 chr11:67055148-67055160
41	NR2F2	chr11:67055456-67056951	MCF-7	breast:	n/a	n/a
42	BCL3	chr11:67055267-67056401	A549	lung:	n/a	chr11:67055795-67055804 chr11:67055465-67055473
43	STAT1	chr11:67055295-67055486	GM12878	blood:	n/a	chr11:67055396-67055408
44	POLR2A	chr11:67054908-67056749	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAZ	chr11:67055284-67057310	K562	blood:	n/a	chr11:67056690-67056699 chr11:67056470-67056480
46	POLR2A	chr11:67053261-67056745	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr11:67054912-67057043	Raji	blood:	n/a	n/a
48	POLR2A	chr11:67054998-67057073	K562	blood:	n/a	n/a
49	POLR2A	chr11:67054063-67056551	HepG2	liver:	n/a	n/a
50	PAX5	chr11:67055373-67056743	GM12878	blood:	n/a	chr11:67056437-67056446 chr11:67056183-67056201 chr11:67056181-67056200 chr11:67055795-67055804

No.	Distal block	Cell Line	Cell type
1	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
2	chr11:67054274..67056695-chr11:67119376..67121625,2	K562	blood:
3	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
4	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
5	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
6	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
7	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
8	chr11:67054211..67056226-chr11:67160780..67163309,2	MCF-7	breast:
9	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:
10	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000253024	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11227764	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227771	0.90[EUR][1000 genomes]
rs11227780	0.83[EUR][1000 genomes]
rs11826923	0.83[EUR][1000 genomes]
rs2004225	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3802745	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57238619	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60229295	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61891566	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891569	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61891571	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891572	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61891574	0.90[EUR][1000 genomes]
rs72932705	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
2	chr11:67045400-67055800	Genic enhancers	Placenta	Placenta
3	chr11:67050800-67056000	Weak transcription	Psoas Muscle	Psoas
4	chr11:67053200-67055600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr11:67053400-67055600	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:67053400-67056000	Weak transcription	Ovary	ovary
7	chr11:67053600-67055600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:67053600-67055600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:67053600-67056000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:67053600-67056400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:67053800-67055600	Weak transcription	Aorta	Aorta
12	chr11:67054000-67055600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
13	chr11:67054200-67055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:67054200-67055600	Enhancers	Stomach Mucosa	stomach
15	chr11:67054200-67055800	Genic enhancers	Pancreas	Pancrea
16	chr11:67054400-67055600	Genic enhancers	Fetal Lung	lung
17	chr11:67054400-67055600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:67054400-67056000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:67054400-67056400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr11:67054400-67056400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:67054400-67056400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:67054600-67055600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:67054600-67055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:67054600-67055600	Enhancers	Adipose Nuclei	Adipose
25	chr11:67054600-67055600	Enhancers	Liver	Liver
26	chr11:67054600-67055600	Enhancers	Fetal Brain Male	brain
27	chr11:67054600-67055800	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr11:67054600-67056000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:67054600-67056000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:67054600-67056000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr11:67054600-67056000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:67054600-67056000	Enhancers	Left Ventricle	heart
33	chr11:67054600-67056400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:67054800-67055600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:67054800-67055600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:67054800-67055600	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:67054800-67055600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:67054800-67055600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:67054800-67055600	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:67054800-67055600	Enhancers	Brain Hippocampus Middle	brain
41	chr11:67054800-67055600	Enhancers	Brain Substantia Nigra	brain
42	chr11:67054800-67055600	Enhancers	Right Ventricle	heart
43	chr11:67054800-67055800	Enhancers	Lung	lung
44	chr11:67054800-67056000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr11:67054800-67056400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:67054800-67056400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:67055000-67055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:67055000-67055600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:67055000-67055600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:67055000-67055600	Enhancers	Cortex derived primary cultured neurospheres	brain

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