Variant report

Variant	rs67909703
Chromosome Location	chr11:62419808-62419809
allele	A/C
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62364982..62366719-chr11:62418980..62421459,2	K562	blood:
2	chr11:62388979..62391312-chr11:62419265..62422205,4	MCF-7	breast:
3	chr11:62375128..62377182-chr11:62419132..62421810,2	MCF-7	breast:
4	chr11:62419108..62423185-chr11:62455731..62458906,3	MCF-7	breast:
5	chr11:62338925..62342513-chr11:62419437..62422643,3	K562	blood:
6	chr11:62356304..62360795-chr11:62418738..62422684,8	MCF-7	breast:
7	chr11:62419246..62422035-chr11:62495091..62497518,2	MCF-7	breast:
8	chr11:62394057..62395888-chr11:62419327..62420896,2	MCF-7	breast:
9	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
10	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
11	chr11:62419165..62420811-chr11:62553646..62555150,2	K562	blood:
12	chr11:62358293..62360645-chr11:62418565..62421912,5	MCF-7	breast:
13	chr11:62400188..62403109-chr11:62417857..62420839,2	MCF-7	breast:
14	chr11:62378061..62382695-chr11:62418790..62422319,4	MCF-7	breast:
15	chr11:62418456..62420946-chr11:62519270..62521680,2	MCF-7	breast:
16	chr11:62419496..62422336-chr11:62607048..62609555,3	MCF-7	breast:
17	chr11:62387048..62391177-chr11:62418783..62422273,6	K562	blood:
18	chr11:62404626..62407242-chr11:62418752..62422321,4	MCF-7	breast:
19	chr11:62359035..62362581-chr11:62419336..62421874,4	K562	blood:
20	chr11:62419322..62423908-chr11:62471994..62474725,4	K562	blood:
21	chr11:62419224..62422208-chr11:62494410..62497267,2	MCF-7	breast:
22	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:
23	chr11:62387284..62391214-chr11:62416794..62420991,4	K562	blood:
24	chr11:62378832..62381851-chr11:62418002..62421701,6	K562	blood:
25	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
26	chr11:62416571..62422086-chr11:62473445..62479277,7	MCF-7	breast:
27	chr11:62387534..62391195-chr11:62419340..62423776,5	MCF-7	breast:
28	chr11:62162457..62164216-chr11:62419128..62420644,2	MCF-7	breast:
29	chr11:62417050..62420796-chr11:62647729..62650585,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168003	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000162222	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10792355	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10792356	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897289	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11231172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231173	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11231176	0.96[EUR][1000 genomes]
rs11231181	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231182	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231183	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231184	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12291465	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12364753	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12364756	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13941	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17637597	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893458	0.95[ASN][1000 genomes]
rs2956993	0.95[ASN][1000 genomes]
rs2956995	0.95[ASN][1000 genomes]
rs2957122	0.85[ASN][1000 genomes]
rs2958236	0.85[ASN][1000 genomes]
rs3017188	0.88[ASN][1000 genomes]
rs3809079	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4489748	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489778	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs597259	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60435036	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs661182	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs693698	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122950	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71462310	0.82[AMR][1000 genomes]
rs71490396	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71490397	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7949030	0.90[ASN][1000 genomes]
rs9736354	0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67909703	EML3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62417200-62420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:62417400-62420000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62417400-62420000	Weak transcription	Esophagus	oesophagus
4	chr11:62417400-62420000	Weak transcription	Ovary	ovary
5	chr11:62418200-62420000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:62418200-62420000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:62418400-62420000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:62418400-62420000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:62419000-62420000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:62419000-62420000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:62419000-62420000	Enhancers	Adipose Nuclei	Adipose
12	chr11:62419000-62420000	Enhancers	Brain Anterior Caudate	brain
13	chr11:62419000-62420000	Enhancers	Fetal Muscle Leg	muscle
14	chr11:62419200-62420000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:62419200-62420000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:62419200-62420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:62419200-62420000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:62419200-62420000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:62419200-62420000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:62419200-62420000	Enhancers	Brain Angular Gyrus	brain
21	chr11:62419200-62420000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:62419200-62420000	Active TSS	Fetal Brain Female	brain
23	chr11:62419200-62420000	Enhancers	Fetal Heart	heart
24	chr11:62419200-62420000	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:62419200-62420000	Enhancers	Placenta	Placenta
26	chr11:62419200-62420000	Enhancers	Pancreas	Pancrea
27	chr11:62419200-62420200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:62419200-62420200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:62419200-62420200	Enhancers	Spleen	Spleen
30	chr11:62419200-62420400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:62419200-62420400	Flanking Active TSS	Dnd41	blood
32	chr11:62419200-62420400	Flanking Active TSS	Hela-S3	cervix
33	chr11:62419200-62420600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:62419400-62420000	Enhancers	Fetal Intestine Small	intestine
35	chr11:62419400-62420000	Enhancers	Fetal Kidney	kidney
36	chr11:62419400-62420000	Weak transcription	Gastric	stomach
37	chr11:62419400-62420000	Enhancers	Small Intestine	intestine
38	chr11:62419400-62420400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:62419400-62420400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:62419400-62420400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:62419400-62420400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:62419400-62420400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:62419400-62420600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:62419400-62421200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:62419600-62420000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:62419600-62420000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:62419600-62420000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:62419600-62420000	Active TSS	HepG2	liver
49	chr11:62419600-62420200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr11:62419600-62420200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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