Variant report

Variant	rs11231184
Chromosome Location	chr11:62447563-62447564
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62447213-62447654	HepG2	liver:	n/a	n/a
2	CTCF	chr11:62447500-62447650	GM12864	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62443864..62449143-chr11:62570867..62574736,5	MCF-7	breast:
2	chr11:62445244..62448417-chr11:62608083..62610327,3	K562	blood:
3	chr11:62379447..62382071-chr11:62444982..62448263,3	K562	blood:
4	chr11:62444596..62448445-chr11:62472565..62478023,8	MCF-7	breast:
5	chr11:62339974..62343757-chr11:62445815..62448618,4	MCF-7	breast:
6	chr11:62445463..62448140-chr11:62574337..62576991,3	K562	blood:
7	chr11:62445054..62448802-chr11:62471640..62476934,8	MCF-7	breast:
8	chr11:62367343..62369766-chr11:62446126..62447935,2	MCF-7	breast:
9	chr11:62412542..62416623-chr11:62445083..62448015,6	MCF-7	breast:
10	chr11:62446838..62449005-chr11:62457383..62459679,3	MCF-7	breast:
11	chr11:62446914..62448860-chr11:62589013..62591491,2	K562	blood:
12	chr11:62444918..62447837-chr11:62491934..62496304,8	MCF-7	breast:
13	chr11:62388078..62389661-chr11:62446951..62449183,2	MCF-7	breast:
14	chr11:62443308..62448150-chr11:62605609..62609609,8	MCF-7	breast:
15	chr11:62445053..62447754-chr11:62554630..62556211,2	MCF-7	breast:
16	chr11:62379447..62382071-chr11:62443592..62448263,4	K562	blood:
17	chr11:62445202..62448329-chr11:62494290..62496840,3	MCF-7	breast:
18	chr11:62370041..62371967-chr11:62445972..62447850,2	K562	blood:
19	chr11:62436333..62448417-chr11:62605662..62610542,19	K562	blood:
20	chr11:62339919..62342407-chr11:62445471..62448261,3	MCF-7	breast:
21	chr11:62444508..62449947-chr11:62472248..62477977,7	K562	blood:
22	chr11:62445243..62448233-chr11:62528548..62530426,2	K562	blood:
23	chr11:62444275..62448625-chr11:62455839..62459957,10	MCF-7	breast:
24	chr11:62443904..62448212-chr11:62620464..62623638,4	K562	blood:

No data

Variant related genes	Relation type
UBXN1	TF binding region
ENSG00000269463	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000149541	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10792355	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10792356	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231172	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231173	0.89[ASN][1000 genomes]
rs11231176	0.91[EUR][1000 genomes]
rs11231181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11231182	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231183	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12291465	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12364753	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12364756	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13941	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17637597	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809079	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4489748	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs489778	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs597259	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60435036	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs661182	0.84[EUR][1000 genomes]
rs67909703	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs693698	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71490396	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71490397	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9736354	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11231184	EML3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62446800-62448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62446800-62455400	Weak transcription	Gastric	stomach
3	chr11:62447000-62447600	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:62447000-62447600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:62447000-62447600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:62447000-62447600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:62447000-62447600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:62447000-62447600	Weak transcription	Lung	lung
9	chr11:62447000-62448200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:62447000-62448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:62447000-62448200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:62447000-62448200	Weak transcription	Left Ventricle	heart
13	chr11:62447000-62448200	Weak transcription	Ovary	ovary
14	chr11:62447000-62448200	Weak transcription	Right Ventricle	heart
15	chr11:62447000-62448200	Weak transcription	Stomach Mucosa	stomach
16	chr11:62447000-62448200	Weak transcription	A549	lung
17	chr11:62447000-62448200	Weak transcription	HSMMtube	muscle
18	chr11:62447000-62448200	Weak transcription	NH-A	brain
19	chr11:62447000-62448200	Weak transcription	NHEK	skin
20	chr11:62447000-62448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:62447000-62448400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:62447000-62448400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:62447000-62448400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:62447000-62448800	Enhancers	Placenta	Placenta
25	chr11:62447000-62450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:62447000-62455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:62447000-62457400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:62447000-62457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:62447000-62457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:62447000-62458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:62447200-62447600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:62447200-62447600	Enhancers	Liver	Liver
34	chr11:62447200-62447600	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:62447200-62447600	Enhancers	Dnd41	blood
36	chr11:62447200-62448000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:62447200-62448000	Weak transcription	Psoas Muscle	Psoas
38	chr11:62447200-62448000	Weak transcription	Hela-S3	cervix
39	chr11:62447200-62448000	Weak transcription	HepG2	liver
40	chr11:62447200-62448200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:62447200-62448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:62447200-62448200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:62447200-62448200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:62447200-62448200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:62447200-62448200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:62447200-62448200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:62447200-62448200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:62447200-62448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:62447200-62448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:62447200-62448200	Weak transcription	Muscle Satellite Cultured Cells	--

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