Variant report

Variant	rs12292661
Chromosome Location	chr11:62383493-62383494
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62383464-62383780	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62381071..62383567-chr11:62400385..62403576,3	K562	blood:
2	chr11:62160287..62162043-chr11:62381088..62384436,3	K562	blood:
3	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
4	chr11:62381828..62384765-chr11:62571900..62574182,2	MCF-7	breast:
5	chr11:62381310..62383705-chr11:62395490..62397598,2	K562	blood:
6	chr11:62355644..62361752-chr11:62377047..62383949,17	MCF-7	breast:
7	chr11:62378641..62383731-chr11:62412268..62415992,8	K562	blood:
8	chr11:62375885..62391030-chr11:62428132..62435550,30	MCF-7	breast:
9	chr11:62382884..62384970-chr11:62420663..62423261,3	MCF-7	breast:
10	chr11:62382869..62385259-chr11:62445015..62447014,2	K562	blood:
11	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
12	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:

No data

Variant related genes	Relation type
EML3	TF binding region
ENSG00000206597	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162191	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12270159	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1799959	1.00[EUR][1000 genomes]
rs2956992	1.00[EUR][1000 genomes]
rs4343028	1.00[EUR][1000 genomes]
rs4387351	1.00[EUR][1000 genomes]
rs55979088	1.00[EUR][1000 genomes]
rs73502110	1.00[EUR][1000 genomes]
rs948683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62379800-62384200	Weak transcription	Fetal Lung	lung
2	chr11:62380000-62386600	Weak transcription	GM12878-XiMat	blood
3	chr11:62380200-62383800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:62380400-62384200	Weak transcription	Aorta	Aorta
5	chr11:62380400-62386600	Weak transcription	HSMMtube	muscle
6	chr11:62380600-62387800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:62380600-62388000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:62380600-62388000	Weak transcription	Psoas Muscle	Psoas
9	chr11:62380600-62388200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:62380600-62388400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:62380800-62383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:62380800-62383800	Weak transcription	Small Intestine	intestine
13	chr11:62380800-62384000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:62380800-62384000	Weak transcription	Primary B cells from cord blood	blood
15	chr11:62380800-62387800	Weak transcription	HSMM	muscle
16	chr11:62380800-62388200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:62380800-62388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:62380800-62388400	Weak transcription	Right Atrium	heart
19	chr11:62381000-62383800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62381000-62383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:62381000-62383800	Weak transcription	Left Ventricle	heart
22	chr11:62381000-62383800	Weak transcription	Osteobl	bone
23	chr11:62381000-62384000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:62381000-62384200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:62381000-62384800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:62381000-62387800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:62381000-62387800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:62381000-62387800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:62381000-62387800	Weak transcription	HUVEC	blood vessel
30	chr11:62381000-62387800	Weak transcription	NH-A	brain
31	chr11:62381000-62388000	Weak transcription	Fetal Brain Male	brain
32	chr11:62381000-62388200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:62381000-62388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:62381000-62388200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:62381000-62388600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:62381200-62383800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:62381200-62383800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:62381200-62383800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:62381200-62386000	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:62381200-62387000	Strong transcription	Fetal Thymus	thymus
41	chr11:62381200-62388000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:62381400-62383600	Weak transcription	Brain Anterior Caudate	brain
43	chr11:62381400-62383800	Weak transcription	NHDF-Ad	bronchial
44	chr11:62381400-62385000	Strong transcription	Brain Germinal Matrix	brain
45	chr11:62381600-62384600	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:62381600-62385200	Strong transcription	Thymus	Thymus
47	chr11:62381800-62385000	Strong transcription	Primary T cells from cord blood	blood
48	chr11:62381800-62385000	Strong transcription	Fetal Brain Female	brain
49	chr11:62381800-62385200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:62381800-62385200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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