Variant report

Variant	rs11231182
Chromosome Location	chr11:62438498-62438499
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:62438341-62439992	SK-N-SH	brain:	n/a	chr11:62439169-62439180 chr11:62439901-62439915
2	MAX	chr11:62438314-62440810	HCT-116	colon:	n/a	n/a
3	RUNX3	chr11:62438325-62440152	GM12878	blood:	n/a	chr11:62438836-62438851
4	MAX	chr11:62438396-62440064	K562	blood:	n/a	n/a
5	POLR2A	chr11:62438315-62439987	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr11:62438359-62440199	K562	blood:	n/a	n/a
7	EGR1	chr11:62438475-62438651	K562	blood:	n/a	chr11:62438588-62438601 chr11:62438587-62438601 chr11:62438589-62438599 chr11:62438589-62438599 chr11:62438588-62438601 chr11:62438589-62438600 chr11:62438587-62438602
8	MAX	chr11:62438363-62438585	K562	blood:	n/a	n/a
9	POLR2A	chr11:62438400-62438577	GM12878	blood:	n/a	n/a
10	TCF12	chr11:62438405-62440130	A549	lung:	n/a	n/a
11	TRIM28	chr11:62438309-62440099	K562	blood:	n/a	n/a
12	SP4	chr11:62438405-62438718	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr11:62438455-62440114	K562	blood:	n/a	n/a
14	GTF3C2	chr11:62438010-62439580	K562	blood:	n/a	n/a
15	MAX	chr11:62438316-62440256	A549	lung:	n/a	n/a
16	SIN3AK20	chr11:62438409-62439812	A549	lung:	n/a	n/a
17	SP1	chr11:62438455-62439288	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr11:62438394-62440227	IMR90	lung:	n/a	n/a
19	POLR2A	chr11:62438349-62440126	GM12892	blood:	n/a	n/a
20	MAX	chr11:62438342-62440780	HCT-116	colon:	n/a	n/a
21	PAX5	chr11:62438331-62438650	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:62438306-62440712	HL-60	blood:	n/a	n/a
23	SIX5	chr11:62438463-62440020	A549	lung:	n/a	n/a
24	POLR2A	chr11:62438421-62440190	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:62438311-62440122	ECC-1	luminal epithelium:	n/a	n/a
26	STAT5A	chr11:62438376-62440122	GM12878	blood:	n/a	n/a
27	RUNX3	chr11:62438379-62440196	GM12878	blood:	n/a	chr11:62438836-62438851
28	POLR2A	chr11:62438413-62440081	Hela-S3	cervix:	n/a	n/a
29	MTA3	chr11:62438368-62440308	GM12878	blood:	n/a	n/a
30	HEY1	chr11:62438342-62438669	K562	blood:	n/a	n/a
31	POLR2A	chr11:62438337-62440216	PFSK-1	brain:	n/a	n/a
32	ZNF384	chr11:62438477-62440504	K562	blood:	n/a	n/a
33	POLR2A	chr11:62438366-62440120	HCT-116	colon:	n/a	n/a
34	POLR2A	chr11:62438305-62440878	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:62438353-62440275	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr11:62438296-62440838	K562	blood:	n/a	n/a
37	CBX3	chr11:62438288-62438780	K562	blood:	n/a	n/a
38	POLR2A	chr11:62438339-62440227	K562	blood:	n/a	n/a
39	GATA3	chr11:62438455-62440065	A549	lung:	n/a	chr11:62439096-62439105 chr11:62439408-62439418 chr11:62438693-62438702
40	PAX5	chr11:62438436-62438648	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr11:62438444-62440180	K562	blood:	n/a	n/a
42	SIN3AK20	chr11:62438300-62440242	MCF-7	breast:	n/a	n/a
43	NFATC1	chr11:62438438-62440109	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:62438388-62438678	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:62438473-62440037	HUVEC	blood vessel:	n/a	n/a
46	EGR1	chr11:62438450-62438754	K562	blood:	n/a	chr11:62438588-62438601 chr11:62438587-62438601 chr11:62438589-62438599 chr11:62438589-62438599 chr11:62438588-62438601 chr11:62438589-62438600 chr11:62438587-62438602
47	HEY1	chr11:62438412-62440196	K562	blood:	n/a	n/a
48	POLR2A	chr11:62438495-62440031	K562	blood:	n/a	n/a
49	TEAD4	chr11:62438374-62440058	K562	blood:	n/a	n/a
50	POLR2A	chr11:62438360-62440881	K562	blood:	n/a	n/a

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62398695..62402146-chr11:62437688..62440661,4	MCF-7	breast:
2	chr11:61196244..61197986-chr11:62438417..62440455,2	MCF-7	breast:
3	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
4	chr11:62357027..62359159-chr11:62437466..62439059,2	MCF-7	breast:
5	chr11:62401244..62403243-chr11:62438042..62440764,2	MCF-7	breast:
6	chr11:62437407..62441142-chr11:62472174..62474632,6	K562	blood:
7	chr11:62385249..62394022-chr11:62430274..62439840,30	K562	blood:
8	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
9	chr11:62373062..62383315-chr11:62429730..62439835,25	MCF-7	breast:
10	chr11:62431329..62439956-chr11:62534683..62540515,15	K562	blood:
11	chr11:62437902..62440442-chr11:62649124..62651386,2	K562	blood:
12	chr11:62437831..62441395-chr11:62457569..62460613,4	MCF-7	breast:
13	chr11:62437850..62439448-chr11:62457441..62459643,2	MCF-7	breast:
14	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
15	chr11:62436186..62443328-chr11:62605173..62609692,11	MCF-7	breast:
16	chr11:62437179..62441189-chr11:62491770..62496446,10	K562	blood:
17	chr11:62437536..62440497-chr11:62572086..62574546,2	K562	blood:
18	chr11:62436317..62438708-chr11:62474733..62477422,2	MCF-7	breast:
19	chr11:62373213..62382341-chr11:62430187..62440422,29	K562	blood:
20	chr11:62388014..62391477-chr11:62437916..62440907,4	MCF-7	breast:
21	chr11:62378546..62380116-chr11:62436360..62439103,2	MCF-7	breast:
22	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
23	chr11:62437710..62440274-chr11:62620647..62623771,3	MCF-7	breast:
24	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
25	chr11:62438121..62439741-chr11:62537065..62539203,2	K562	blood:
26	chr11:62437956..62440690-chr11:62471946..62474260,6	MCF-7	breast:
27	chr11:62357319..62360814-chr11:62437164..62440854,7	K562	blood:
28	chr11:62437818..62440544-chr11:62462109..62463883,3	K562	blood:
29	chr11:62437650..62440522-chr11:62470296..62474639,5	K562	blood:
30	chr11:62406539..62408693-chr11:62437828..62440154,2	MCF-7	breast:
31	chr11:62359198..62361041-chr11:62437324..62439045,2	MCF-7	breast:
32	chr11:62437470..62440242-chr11:62620623..62623649,4	K562	blood:
33	chr11:62438216..62442259-chr11:62472089..62478443,13	MCF-7	breast:
34	chr11:62430854..62442244-chr11:62606149..62611424,26	K562	blood:
35	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
36	chr11:62436416..62439082-chr11:62606884..62609041,4	MCF-7	breast:
37	chr11:62436644..62439359-chr11:62646545..62649165,3	MCF-7	breast:
38	chr11:62357319..62362043-chr11:62437125..62441010,6	K562	blood:
39	chr11:62437275..62439267-chr11:62553452..62555384,2	MCF-7	breast:
40	chr11:62362245..62364741-chr11:62437553..62440349,2	K562	blood:
41	chr11:62339758..62342411-chr11:62437279..62439132,3	MCF-7	breast:
42	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
43	chr11:62436333..62448417-chr11:62605662..62610542,19	K562	blood:
44	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
45	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
46	chr11:62438253..62439957-chr11:62553484..62555003,2	K562	blood:
47	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
48	chr11:62437834..62441678-chr11:62528022..62529597,3	MCF-7	breast:
49	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
50	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:

No data

Variant related genes	Relation type
C11orf83	TF binding region
C11orf48	TF binding region
ENSG00000162231	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000149532	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000256591	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000167985	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10792355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792356	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897289	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[ASN][1000 genomes]
rs11231161	0.82[JPT][hapmap]
rs11231172	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231173	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11231176	0.96[EUR][1000 genomes]
rs11231181	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231184	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12291465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364753	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12364756	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13941	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17637597	0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893458	0.97[ASN][1000 genomes]
rs2956993	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2956995	0.97[ASN][1000 genomes]
rs2957122	0.88[ASN][1000 genomes]
rs2958236	0.88[ASN][1000 genomes]
rs3017188	0.90[ASN][1000 genomes]
rs3017666	0.82[ASN][1000 genomes]
rs3018561	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3809079	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489748	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs489778	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597259	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60435036	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs644616	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs661182	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67909703	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs693698	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128852	0.81[ASN][1000 genomes]
rs71490396	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71490397	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949030	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9736354	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription 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	243 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11231182	EML3	cis	multi-tissue	Pritchard
rs11231182	EML3	cis	uninvolved skin	skin_eQTL
rs11231182	EML3	cis	Esophagus Mucosa	GTEx
rs11231182	B3GAT3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62433800-62438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62435200-62438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:62435200-62438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:62435800-62438600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:62437000-62438800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr11:62437000-62439200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:62437200-62440000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:62437600-62438600	Weak transcription	Ovary	ovary
9	chr11:62437600-62438800	Enhancers	Spleen	Spleen
10	chr11:62437800-62438600	Weak transcription	Aorta	Aorta
11	chr11:62437800-62438600	Enhancers	Lung	lung
12	chr11:62437800-62438600	Weak transcription	Psoas Muscle	Psoas
13	chr11:62437800-62438600	Enhancers	Stomach Mucosa	stomach
14	chr11:62437800-62440200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:62437800-62440200	Active TSS	K562	blood
16	chr11:62438000-62438600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:62438000-62438600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:62438000-62438600	Enhancers	Fetal Brain Male	brain
19	chr11:62438000-62438800	Flanking Active TSS	Dnd41	blood
20	chr11:62438000-62439000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:62438000-62439000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:62438000-62439000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:62438000-62440400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:62438000-62440400	Active TSS	GM12878-XiMat	blood
25	chr11:62438200-62438600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:62438200-62438600	Flanking Active TSS	Placenta	Placenta
27	chr11:62438200-62438600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:62438200-62438800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:62438200-62438800	Flanking Active TSS	HSMM	muscle
30	chr11:62438200-62439200	Active TSS	Brain Germinal Matrix	brain
31	chr11:62438200-62440200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:62438400-62438600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:62438400-62438600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:62438400-62438600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:62438400-62438600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:62438400-62438600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:62438400-62438600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:62438400-62438600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:62438400-62438600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:62438400-62438600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr11:62438400-62438600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:62438400-62438600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:62438400-62438600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:62438400-62438600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr11:62438400-62438600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr11:62438400-62438600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr11:62438400-62438600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:62438400-62438600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:62438400-62438600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr11:62438400-62438600	Flanking Active TSS	Fetal Intestine Small	intestine

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