Variant report

Variant	rs570996743
Chromosome Location	chr11:63705398-63705399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:63705384-63705922	GM12878	blood:	n/a	n/a
2	MXI1	chr11:63705340-63707417	SK-N-SH	brain:	n/a	chr11:63706227-63706242 chr11:63706700-63706709 chr11:63706682-63706691 chr11:63706229-63706244 chr11:63706656-63706665
3	MAX	chr11:63705350-63707451	A549	lung:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63707301-63707311 chr11:63706681-63706690 chr11:63706229-63706238
4	SP1	chr11:63705378-63706828	A549	lung:	n/a	chr11:63706259-63706268 chr11:63706258-63706270 chr11:63706260-63706269 chr11:63706782-63706791 chr11:63706258-63706270 chr11:63706781-63706790 chr11:63706781-63706791 chr11:63706424-63706433 chr11:63706780-63706792 chr11:63706308-63706322 chr11:63706781-63706791 chr11:63706780-63706792 chr11:63706781-63706795 chr11:63706663-63706677
5	SIN3AK20	chr11:63705315-63706612	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:63705306-63707311	HepG2	liver:	n/a	n/a
7	HCFC1	chr11:63704987-63707541	Hela-S3	cervix:	n/a	n/a
8	SMARCC1	chr11:63705258-63706323	Hela-S3	cervix:	n/a	n/a
9	TFAP2C	chr11:63705319-63706363	Hela-S3	cervix:	n/a	chr11:63706140-63706155
10	SIN3AK20	chr11:63705348-63707506	MCF-7	breast:	n/a	n/a
11	TCF12	chr11:63705303-63706849	A549	lung:	n/a	n/a
12	ZNF263	chr11:63705168-63706331	HEK293-T-REx	kidney:	n/a	chr11:63705582-63705603
13	ELF1	chr11:63705296-63706417	MCF-7	breast:	n/a	n/a
14	NR2F2	chr11:63705360-63707296	K562	blood:	n/a	n/a

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	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
4	chr11:63704733..63706426-chr11:63742021..63745098,3	K562	blood:
5	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
6	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
7	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
8	chr11:63704888..63707484-chr11:63951709..63953319,2	MCF-7	breast:
9	chr11:63697160..63699564-chr11:63703957..63705699,2	MCF-7	breast:
10	chr1:43312160..43312711-chr11:63705230..63706062,2	Hela-S3	cervix:
11	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
12	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000256100	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000164011	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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
10	esv3321721	chr11:63705201-63707749	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
8	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
12	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:63702400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:63702400-63705600	Weak transcription	Osteobl	bone
17	chr11:63703000-63705400	Weak transcription	Placenta	Placenta
18	chr11:63703400-63705400	Weak transcription	Right Ventricle	heart
19	chr11:63703600-63705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:63705000-63705400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:63705000-63705400	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:63705000-63705400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:63705000-63705400	Enhancers	A549	lung
24	chr11:63705000-63705400	Enhancers	HepG2	liver
25	chr11:63705000-63705400	Enhancers	HMEC	breast
26	chr11:63705000-63705400	Enhancers	K562	blood
27	chr11:63705000-63705400	Enhancers	NHEK	skin
28	chr11:63705000-63705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63705000-63705600	Weak transcription	Fetal Brain Male	brain
30	chr11:63705000-63705600	Enhancers	Pancreas	Pancrea
31	chr11:63705000-63706000	Flanking Active TSS	Hela-S3	cervix
32	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:63705200-63705400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:63705200-63705400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:63705200-63705400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:63705200-63705400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:63705200-63705400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:63705200-63705400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:63705200-63705400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:63705200-63705400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:63705200-63705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:63705200-63705400	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:63705200-63705400	Enhancers	Fetal Intestine Small	intestine
44	chr11:63705200-63705400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:63705200-63705400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:63705200-63705400	Enhancers	GM12878-XiMat	blood
47	chr11:63705200-63705600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:63705200-63705600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:63705200-63705600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:63705200-63705600	Enhancers	Fetal Kidney	kidney

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