Variant report

Variant	rs11231173
Chromosome Location	chr11:62418921-62418922
allele	A/T
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:13)
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	chr11:62418746-62418930	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62418915-62419125	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62356304..62360795-chr11:62418738..62422684,8	MCF-7	breast:
2	chr11:62358293..62360645-chr11:62418565..62421912,5	MCF-7	breast:
3	chr11:62400188..62403109-chr11:62417857..62420839,2	MCF-7	breast:
4	chr11:62378061..62382695-chr11:62418790..62422319,4	MCF-7	breast:
5	chr11:62418456..62420946-chr11:62519270..62521680,2	MCF-7	breast:
6	chr11:62387048..62391177-chr11:62418783..62422273,6	K562	blood:
7	chr11:62404626..62407242-chr11:62418752..62422321,4	MCF-7	breast:
8	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:
9	chr11:62387284..62391214-chr11:62416794..62420991,4	K562	blood:
10	chr11:62378832..62381851-chr11:62418002..62421701,6	K562	blood:
11	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
12	chr11:62416571..62422086-chr11:62473445..62479277,7	MCF-7	breast:
13	chr11:62417050..62420796-chr11:62647729..62650585,3	K562	blood:

No data

Variant related genes	Relation type
GANAB	TF binding region
ENSG00000254772	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000149489	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10792355	0.90[ASN][1000 genomes]
rs10792356	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10897289	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11231172	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231176	0.80[ASN][1000 genomes]
rs11231181	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11231182	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11231183	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11231184	0.89[ASN][1000 genomes]
rs12291465	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12364753	0.97[ASN][1000 genomes]
rs12364756	0.97[ASN][1000 genomes]
rs13941	0.87[ASN][1000 genomes]
rs17637597	0.97[ASN][1000 genomes]
rs1893458	0.90[ASN][1000 genomes]
rs2956993	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2956995	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2957122	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2958236	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3017188	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3017666	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3809079	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4489748	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs489778	0.87[ASN][1000 genomes]
rs597259	0.87[ASN][1000 genomes]
rs60435036	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs661182	0.90[ASN][1000 genomes]
rs67909703	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs693698	0.87[ASN][1000 genomes]
rs7122950	0.83[ASN][1000 genomes]
rs7128852	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71490396	0.89[ASN][1000 genomes]
rs71490397	0.92[ASN][1000 genomes]
rs7949030	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9736354	0.90[AFR][1000 genomes];0.97[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11231173	EEF1G	cis	multi-tissue	Pritchard
rs11231173	EML3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62414200-62419200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62414600-62419400	Weak transcription	Fetal Kidney	kidney
3	chr11:62414600-62419800	Weak transcription	Right Atrium	heart
4	chr11:62414800-62419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:62414800-62419800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:62415000-62419000	Strong transcription	Fetal Stomach	stomach
7	chr11:62415000-62419800	Weak transcription	Stomach Mucosa	stomach
8	chr11:62415200-62419200	Weak transcription	Fetal Heart	heart
9	chr11:62415600-62419200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:62415600-62419200	Weak transcription	NHDF-Ad	bronchial
11	chr11:62417000-62419200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:62417200-62419200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:62417200-62419200	Weak transcription	HUVEC	blood vessel
14	chr11:62417200-62420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:62417400-62419000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:62417400-62419000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:62417400-62419000	Weak transcription	Right Ventricle	heart
18	chr11:62417400-62419000	Weak transcription	HepG2	liver
19	chr11:62417400-62419000	Weak transcription	K562	blood
20	chr11:62417400-62419000	Weak transcription	NHLF	lung
21	chr11:62417400-62419200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:62417400-62419200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:62417400-62419200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:62417400-62419200	Weak transcription	Primary B cells from cord blood	blood
25	chr11:62417400-62419200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:62417400-62419200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:62417400-62419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:62417400-62419200	Weak transcription	Gastric	stomach
29	chr11:62417400-62419200	Weak transcription	Left Ventricle	heart
30	chr11:62417400-62419200	Weak transcription	Lung	lung
31	chr11:62417400-62419200	Weak transcription	Pancreas	Pancrea
32	chr11:62417400-62419200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:62417400-62419200	Weak transcription	A549	lung
34	chr11:62417400-62419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:62417400-62419400	Weak transcription	Brain Germinal Matrix	brain
36	chr11:62417400-62419400	Weak transcription	Small Intestine	intestine
37	chr11:62417400-62419600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:62417400-62419600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:62417400-62419600	Weak transcription	NH-A	brain
40	chr11:62417400-62419800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:62417400-62419800	Weak transcription	Aorta	Aorta
42	chr11:62417400-62420000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:62417400-62420000	Weak transcription	Esophagus	oesophagus
44	chr11:62417400-62420000	Weak transcription	Ovary	ovary
45	chr11:62417600-62419000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:62417600-62419000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:62417600-62419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:62417600-62419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:62417600-62419000	Weak transcription	Adipose Nuclei	Adipose
50	chr11:62417600-62419000	Weak transcription	Liver	Liver

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