Variant report

Variant	rs73494180
Chromosome Location	chr11:63705159-63705160
allele	C/G
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:9)
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	HCFC1	chr11:63704987-63707541	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
2	chr11:62606149..62609197-chr11:63704613..63706388,3	MCF-7	breast:
3	chr11:63704733..63706426-chr11:63742021..63745098,3	K562	blood:
4	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
5	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
6	chr11:63704888..63707484-chr11:63951709..63953319,2	MCF-7	breast:
7	chr11:63697160..63699564-chr11:63703957..63705699,2	MCF-7	breast:
8	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
9	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

No data

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000168439	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1499641	1.00[AMR][1000 genomes]
rs2133545	1.00[AMR][1000 genomes]
rs2133546	0.91[AFR][1000 genomes]
rs320106	1.00[AMR][1000 genomes]
rs320107	0.81[AFR][1000 genomes]
rs320122	0.91[AFR][1000 genomes]
rs320132	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320146	0.82[AFR][1000 genomes]
rs320152	0.82[AFR][1000 genomes]
rs56892076	1.00[AMR][1000 genomes]
rs59337858	1.00[AMR][1000 genomes]
rs60996420	1.00[AMR][1000 genomes]
rs7106110	0.91[AFR][1000 genomes]
rs73492282	1.00[AMR][1000 genomes]
rs73494137	1.00[AMR][1000 genomes]
rs73494164	0.91[AFR][1000 genomes]
rs73494188	1.00[AFR][1000 genomes]
rs7948086	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
4	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
9	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:63701200-63705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
14	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose
17	chr11:63702400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63702400-63705600	Weak transcription	Osteobl	bone
19	chr11:63702600-63705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:63702800-63705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:63703000-63705400	Weak transcription	Placenta	Placenta
22	chr11:63703200-63705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:63703200-63705200	Weak transcription	Fetal Stomach	stomach
24	chr11:63703400-63705400	Weak transcription	Right Ventricle	heart
25	chr11:63703600-63705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:63703600-63705200	Weak transcription	Fetal Kidney	kidney
27	chr11:63703600-63705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:63705000-63705200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr11:63705000-63705200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:63705000-63705200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:63705000-63705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:63705000-63705400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:63705000-63705400	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:63705000-63705400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:63705000-63705400	Enhancers	A549	lung
36	chr11:63705000-63705400	Enhancers	HepG2	liver
37	chr11:63705000-63705400	Enhancers	HMEC	breast
38	chr11:63705000-63705400	Enhancers	K562	blood
39	chr11:63705000-63705400	Enhancers	NHEK	skin
40	chr11:63705000-63705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:63705000-63705600	Weak transcription	Fetal Brain Male	brain
42	chr11:63705000-63705600	Enhancers	Pancreas	Pancrea
43	chr11:63705000-63706000	Flanking Active TSS	Hela-S3	cervix
44	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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