Variant report

Variant	rs1061093
Chromosome Location	chr11:62334908-62334909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62326922..62329969-chr11:62332380..62335184,3	MCF-7	breast:
2	chr11:62334279..62337137-chr11:62608200..62610426,2	MCF-7	breast:
3	chr11:62334617..62336174-chr11:62607469..62608983,2	K562	blood:
4	chr11:62326979..62329934-chr11:62331462..62336636,5	K562	blood:
5	chr11:62330159..62332860-chr11:62333540..62336351,2	K562	blood:
6	chr11:62328251..62330018-chr11:62332722..62335121,2	MCF-7	breast:
7	chr11:62334661..62336534-chr11:62570628..62572991,2	K562	blood:
8	chr11:62330055..62332907-chr11:62333476..62335055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162231	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11231137	0.97[ASN][1000 genomes]
rs11231138	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231141	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231144	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231145	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231150	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231151	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231152	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231154	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231155	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231156	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231161	0.85[EUR][1000 genomes]
rs11553576	0.81[EUR][1000 genomes]
rs12049914	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12223627	0.80[ASN][1000 genomes]
rs12225213	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12226821	0.80[ASN][1000 genomes]
rs12808829	0.84[EUR][1000 genomes]
rs17773169	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1801144	0.86[EUR][1000 genomes]
rs2428548	0.84[EUR][1000 genomes]
rs2428549	0.84[EUR][1000 genomes]
rs2428551	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2509961	0.84[EUR][1000 genomes]
rs2509967	0.84[EUR][1000 genomes]
rs2509982	0.80[EUR][1000 genomes]
rs2512562	0.84[EUR][1000 genomes]
rs2512563	0.84[EUR][1000 genomes]
rs2516634	0.89[EUR][1000 genomes]
rs2849030	0.87[EUR][1000 genomes]
rs2849031	0.88[EUR][1000 genomes]
rs34065644	0.80[ASN][1000 genomes]
rs34894392	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35587183	1.00[ASN][1000 genomes]
rs35880596	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58720921	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60098285	1.00[ASN][1000 genomes]
rs61296092	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124057	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490390	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490392	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71490394	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72927213	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7928833	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930896	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7937146	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7942154	1.00[ASN][1000 genomes]
rs7942991	1.00[ASN][1000 genomes]
rs7943191	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	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
8	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
9	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
10	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1061093	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs1061093	EML3	cis	Esophagus Mucosa	GTEx
rs1061093	MTA2	cis	Esophagus Mucosa	GTEx
rs1061093	EEF1G	cis	multi-tissue	Pritchard
rs1061093	EML3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
2	chr11:62324800-62338800	Strong transcription	Brain Germinal Matrix	brain
3	chr11:62324800-62339600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:62325000-62338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62325000-62338800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:62325200-62339600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:62326400-62339200	Strong transcription	Fetal Thymus	thymus
8	chr11:62326800-62337400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62328400-62338800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:62328600-62337800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:62328600-62339200	Strong transcription	Brain Hippocampus Middle	brain
14	chr11:62328600-62339400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:62328600-62339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:62328600-62339800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:62328600-62340200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:62328800-62338600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:62328800-62339000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:62328800-62339800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:62329000-62337200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:62329000-62338800	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:62329000-62339800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:62329200-62337000	Strong transcription	Adipose Nuclei	Adipose
25	chr11:62329200-62339400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:62329600-62335400	Strong transcription	Brain Anterior Caudate	brain
27	chr11:62329600-62335400	Strong transcription	HSMM	muscle
28	chr11:62329600-62336600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:62329600-62339400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:62329600-62339800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:62329800-62336400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:62329800-62338000	Strong transcription	Fetal Stomach	stomach
33	chr11:62329800-62339000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:62329800-62339400	Strong transcription	Lung	lung
35	chr11:62330000-62335200	Strong transcription	Brain Substantia Nigra	brain
36	chr11:62330000-62338600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:62330000-62339200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:62330000-62339200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:62330000-62339600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:62330200-62338800	Strong transcription	Spleen	Spleen
41	chr11:62330200-62339600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:62330400-62338000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:62330400-62338600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:62330400-62339000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:62330400-62339000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:62330400-62339200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:62330600-62335200	Strong transcription	Primary T cells from cord blood	blood
48	chr11:62330600-62335200	Strong transcription	Fetal Lung	lung
49	chr11:62330600-62335400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr11:62330600-62339800	Strong transcription	Thymus	Thymus

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