Variant report

Variant	rs11231137
Chromosome Location	chr11:62315699-62315700
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	FOSL2	chr11:62315543-62315831	A549	lung:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
2	MAX	chr11:62309970-62316873	A549	lung:	n/a	chr11:62312136-62312143 chr11:62313404-62313414 chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62315029-62315039 chr11:62311094-62311104 chr11:62316366-62316375
3	NR3C1	chr11:62315219-62315779	A549	lung:	n/a	n/a
4	MYC	chr11:62315332-62315843	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr11:62313910-62315873	HepG2	liver:	n/a	chr11:62315029-62315039
6	RCOR1	chr11:62315334-62315724	HepG2	liver:	n/a	n/a
7	FOXA2	chr11:62315222-62315744	A549	lung:	n/a	n/a
8	POLR2A	chr11:62309984-62315714	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr11:62315246-62315897	MCF10A-Er-Src	breast:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
10	POLR2A	chr11:62315152-62315752	A549	lung:	n/a	n/a
11	STAT3	chr11:62315266-62316363	MCF10A-Er-Src	breast:	n/a	chr11:62315488-62315500 chr11:62316253-62316262 chr11:62316254-62316263
12	STAT3	chr11:62315264-62315796	MCF10A-Er-Src	breast:	n/a	chr11:62315488-62315500
13	POLR2A	chr11:62315121-62315705	HepG2	liver:	n/a	n/a
14	JUND	chr11:62315267-62315812	A549	lung:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
15	MXI1	chr11:62315236-62315711	HepG2	liver:	n/a	n/a
16	TCF12	chr11:62311919-62316972	A549	lung:	n/a	chr11:62313556-62313566 chr11:62314439-62314449 chr11:62315752-62315762
17	YY1	chr11:62315227-62315720	HepG2	liver:	n/a	n/a
18	HEY1	chr11:62313997-62315805	HepG2	liver:	n/a	chr11:62315024-62315039
19	MAZ	chr11:62311778-62315881	IMR90	lung:	n/a	chr11:62312136-62312143 chr11:62313404-62313414 chr11:62315029-62315039
20	JUND	chr11:62315603-62315802	HepG2	liver:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
21	FOS	chr11:62315332-62316502	MCF10A-Er-Src	breast:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
22	E2F4	chr11:62315494-62315802	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr11:62309801-62316378	IMR90	lung:	n/a	chr11:62311094-62311103 chr11:62311096-62311105
24	FOSL2	chr11:62314975-62315885	A549	lung:	n/a	chr11:62315669-62315677 chr11:62315032-62315041 chr11:62314976-62314987 chr11:62315669-62315676
25	NR3C1	chr11:62315203-62315762	A549	lung:	n/a	n/a
26	STAT3	chr11:62315310-62316510	MCF10A-Er-Src	breast:	n/a	chr11:62315488-62315500 chr11:62316253-62316262 chr11:62316254-62316263
27	MAX	chr11:62315228-62315951	A549	lung:	n/a	n/a
28	FOXA2	chr11:62315139-62315762	A549	lung:	n/a	n/a
29	FOS	chr11:62315341-62315881	MCF10A-Er-Src	breast:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
30	POLR2A	chr11:62312710-62315764	HepG2	liver:	n/a	n/a
31	SP1	chr11:62315042-62315856	A549	lung:	n/a	n/a
32	FOSL2	chr11:62315162-62315815	HepG2	liver:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
33	MYBL2	chr11:62315099-62315851	HepG2	liver:	n/a	n/a
34	STAT3	chr11:62315307-62315802	MCF10A-Er-Src	breast:	n/a	chr11:62315488-62315500
35	POLR2A	chr11:62315514-62316870	K562	blood:	n/a	n/a
36	FOS	chr11:62315406-62315864	MCF10A-Er-Src	breast:	n/a	chr11:62315669-62315677 chr11:62315669-62315676
37	POLR2A	chr11:62305310-62315726	PANC-1	pancreas:	n/a	n/a
38	SP1	chr11:62315095-62315762	A549	lung:	n/a	n/a
39	MAX	chr11:62312414-62315812	HepG2	liver:	n/a	chr11:62313404-62313414 chr11:62315029-62315039
40	SMC3	chr11:62315435-62315715	HepG2	liver:	n/a	n/a
41	SP1	chr11:62315205-62315733	HepG2	liver:	n/a	n/a
42	MYC	chr11:62315343-62315827	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62314813..62316842-chr11:62432248..62434823,2	K562	blood:
2	chr11:62312875..62316458-chr11:62607023..62608915,3	MCF-7	breast:
3	chr11:62313199..62316159-chr11:62436456..62439298,3	MCF-7	breast:
4	chr11:62313476..62315842-chr11:62339496..62341642,2	K562	blood:
5	chr11:62160001..62161929-chr11:62314310..62315843,2	MCF-7	breast:
6	chr11:62159057..62162717-chr11:62313116..62315762,4	MCF-7	breast:
7	chr11:62313072..62315854-chr11:62358159..62360513,4	MCF-7	breast:
8	chr11:62314801..62317849-chr11:62431900..62434436,3	MCF-7	breast:
9	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000162174	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000254772	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1061093	0.97[ASN][1000 genomes]
rs11231138	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231141	0.97[ASN][1000 genomes]
rs11231144	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11231145	0.97[ASN][1000 genomes]
rs12223627	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12225213	0.80[ASN][1000 genomes]
rs12226821	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17773169	0.90[ASN][1000 genomes]
rs2428551	0.87[ASN][1000 genomes]
rs2516633	0.82[EUR][1000 genomes]
rs34065644	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35587183	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58720921	0.87[ASN][1000 genomes]
rs60098285	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61296092	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67308910	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7124057	0.97[ASN][1000 genomes]
rs71490390	0.97[ASN][1000 genomes]
rs7928833	0.97[ASN][1000 genomes]
rs7930896	0.84[AMR][1000 genomes]
rs7937146	0.87[ASN][1000 genomes]
rs7942154	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7942991	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943191	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11231137	EEF1G	cis	multi-tissue	Pritchard
rs11231137	EML3	cis	Esophagus Mucosa	GTEx
rs11231137	MTA2	cis	Esophagus Mucosa	GTEx
rs11231137	EML3	cis	Whole Blood	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62314600-62315800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:62314600-62316200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr11:62314600-62316600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:62314800-62315800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62314800-62315800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:62314800-62315800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:62314800-62316200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:62314800-62316200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:62314800-62317400	Enhancers	K562	blood
10	chr11:62314800-62319200	Weak transcription	Small Intestine	intestine
11	chr11:62314800-62320000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:62315000-62315800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:62315000-62315800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:62315000-62315800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:62315000-62315800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr11:62315000-62315800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:62315000-62315800	Flanking Active TSS	Fetal Heart	heart
18	chr11:62315000-62315800	Enhancers	Spleen	Spleen
19	chr11:62315000-62316000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:62315000-62316600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:62315000-62316600	Enhancers	Placenta	Placenta
22	chr11:62315000-62316800	Enhancers	Lung	lung
23	chr11:62315000-62316800	Flanking Active TSS	A549	lung
24	chr11:62315000-62317200	Enhancers	Pancreas	Pancrea
25	chr11:62315200-62315800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:62315200-62315800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr11:62315200-62315800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:62315200-62315800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr11:62315200-62315800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr11:62315200-62315800	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:62315200-62317400	Enhancers	Fetal Lung	lung
32	chr11:62315200-62317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:62315200-62319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:62315400-62315800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:62315400-62315800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:62315400-62315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:62315400-62315800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr11:62315400-62315800	Enhancers	Liver	Liver
39	chr11:62315400-62315800	Enhancers	Colonic Mucosa	Colon
40	chr11:62315400-62316200	Enhancers	HSMMtube	muscle
41	chr11:62315400-62316600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:62315400-62316600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:62315400-62316800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:62315400-62316800	Enhancers	Fetal Stomach	stomach
45	chr11:62315400-62316800	Enhancers	Right Atrium	heart
46	chr11:62315400-62316800	Enhancers	NH-A	brain
47	chr11:62315400-62316800	Enhancers	Osteobl	bone
48	chr11:62315400-62317000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:62315400-62317000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:62315400-62317200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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