Variant report

Variant	rs7120767
Chromosome Location	chr11:63707661-63707662
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
3	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
4	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
5	chr11:63601389..63603149-chr11:63706339..63708895,2	K562	blood:
6	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
7	chr11:63705424..63708366-chr11:63719461..63721078,2	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
ENSG00000176340	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12288308	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58348009	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740809	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7106510	0.83[ASN][1000 genomes]
rs7118563	0.86[AFR][1000 genomes];0.83[AMR][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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63705200-63708400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:63705400-63707800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:63705400-63708000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:63705400-63708200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:63706000-63707800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:63706000-63707800	Active TSS	GM12878-XiMat	blood
7	chr11:63706400-63708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:63706600-63707800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr11:63706600-63708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:63706800-63707800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:63706800-63707800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:63706800-63708000	Flanking Active TSS	Fetal Brain Female	brain
13	chr11:63707000-63707800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:63707000-63707800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:63707000-63707800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:63707000-63708000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr11:63707000-63708000	Flanking Active TSS	Dnd41	blood
18	chr11:63707000-63708000	Flanking Active TSS	Hela-S3	cervix
19	chr11:63707000-63708200	Flanking Active TSS	K562	blood
20	chr11:63707000-63708600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:63707200-63707800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:63707200-63707800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63707200-63708600	Enhancers	Spleen	Spleen
24	chr11:63707200-63709000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:63707400-63707800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:63707400-63707800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:63707400-63707800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63707400-63707800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:63707400-63707800	Active TSS	Duodenum Mucosa	Duodenum
31	chr11:63707400-63707800	Weak transcription	Pancreas	Pancrea
32	chr11:63707400-63707800	Flanking Active TSS	HepG2	liver
33	chr11:63707400-63708000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:63707400-63708000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:63707400-63708000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:63707400-63708000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:63707400-63708000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:63707400-63708000	Enhancers	Adipose Nuclei	Adipose
39	chr11:63707400-63708000	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:63707400-63708000	Enhancers	Gastric	stomach
41	chr11:63707400-63708000	Enhancers	Left Ventricle	heart
42	chr11:63707400-63708000	Enhancers	Stomach Mucosa	stomach
43	chr11:63707400-63708200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:63707400-63708200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:63707400-63708200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:63707400-63708200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:63707400-63708200	Enhancers	Placenta	Placenta
48	chr11:63707400-63708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:63707400-63708600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:63707400-63708600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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