Variant report

Variant	rs58009222
Chromosome Location	chr11:63898162-63898163
allele	A/C
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	MYC	chr11:63898141-63898243	MCF-7	breast:	n/a	n/a
2	FOXA1	chr11:63898153-63898381	HepG2	liver:	n/a	chr11:63898276-63898291
3	FOXA1	chr11:63898094-63898374	HepG2	liver:	n/a	chr11:63898276-63898291
4	SRF	chr11:63898064-63898202	HepG2	liver:	n/a	chr11:63898133-63898142 chr11:63898132-63898149 chr11:63898129-63898147 chr11:63898131-63898144 chr11:63898129-63898143 chr11:63898127-63898145 chr11:63898132-63898143 chr11:63898131-63898144
5	FOXA1	chr11:63898050-63898476	HepG2	liver:	n/a	chr11:63898276-63898291
6	FOXA1	chr11:63898104-63898373	T-47D	breast:	n/a	chr11:63898276-63898291
7	SRF	chr11:63897843-63898450	MCF-7	breast:	n/a	chr11:63898133-63898142 chr11:63898132-63898149 chr11:63898129-63898147 chr11:63898131-63898144 chr11:63898129-63898143 chr11:63898127-63898145 chr11:63898132-63898143 chr11:63898131-63898144
8	FOXA2	chr11:63898126-63898518	A549	lung:	n/a	n/a
9	FOXA2	chr11:63898097-63898425	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:63898108-63898389	HepG2	liver:	n/a	chr11:63898276-63898291

No.	Distal block	Cell Line	Cell type
1	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
2	chr11:63896273..63898593-chr11:63900938..63902757,2	K562	blood:
3	chr11:63897701..63899645-chr11:63901287..63903042,2	K562	blood:
4	chr11:63788062..63790678-chr11:63896459..63899438,2	K562	blood:
5	chr11:63896044..63898939-chr11:63908774..63911161,2	MCF-7	breast:
6	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
7	chr11:63888929..63891222-chr11:63896109..63898759,2	MCF-7	breast:

Variant related genes	Relation type
MACROD1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2286612	0.83[ASN][1000 genomes]
rs57052719	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58312494	1.00[EUR][1000 genomes]
rs58694215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58747362	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59747132	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60095771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60571265	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61143549	1.00[ASN][1000 genomes]
rs61629200	0.88[ASN][1000 genomes]
rs7950596	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
10	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
11	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
12	nsv356	chr11:63868847-63913129	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
14	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63885400-63898600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:63885600-63911200	Weak transcription	Gastric	stomach
3	chr11:63886800-63908600	Weak transcription	Ovary	ovary
4	chr11:63890000-63899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:63890200-63899200	Weak transcription	Fetal Lung	lung
6	chr11:63890600-63899200	Weak transcription	Left Ventricle	heart
7	chr11:63890600-63899400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
9	chr11:63890800-63899200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:63890800-63899200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:63890800-63899400	Weak transcription	Right Atrium	heart
12	chr11:63891000-63898400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:63891000-63899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:63891200-63898800	Weak transcription	Fetal Brain Female	brain
15	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:63892200-63900400	Enhancers	Pancreas	Pancrea
17	chr11:63892400-63904400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:63893000-63899400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:63893200-63900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:63893800-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:63894000-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:63894000-63898400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:63894000-63898400	Weak transcription	Fetal Thymus	thymus
24	chr11:63894000-63899000	Weak transcription	Primary T cells from cord blood	blood
25	chr11:63894400-63898200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:63894400-63900400	Enhancers	Fetal Intestine Large	intestine
27	chr11:63894600-63899200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:63894800-63898200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:63894800-63898600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:63894800-63899200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:63895600-63899600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:63895800-63899200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:63896000-63899000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:63896000-63899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:63896000-63899400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:63896400-63898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:63896600-63898600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:63896600-63898800	Strong transcription	Hela-S3	cervix
40	chr11:63896600-63901200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:63896600-63906600	Weak transcription	Spleen	Spleen
42	chr11:63896600-63909000	Weak transcription	Adipose Nuclei	Adipose
43	chr11:63896800-63898200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:63896800-63898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:63896800-63898200	Enhancers	Liver	Liver
46	chr11:63896800-63898600	Weak transcription	Right Ventricle	heart
47	chr11:63897000-63899200	Weak transcription	Brain Anterior Caudate	brain
48	chr11:63897000-63900400	Enhancers	Fetal Intestine Small	intestine
49	chr11:63897200-63901600	Enhancers	HepG2	liver
50	chr11:63897200-63918400	Weak transcription	Dnd41	blood

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