Variant report

Variant	rs11253286
Chromosome Location	chr10:120756-120757
allele	A/T
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	CTCF	chr10:120660-120810	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:119687..121775-chr10:180053..183038,3	MCF-7	breast:

Variant related genes	Relation type
TUBB8	TF binding region
ENSG00000015171	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2379069	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72651781	1.00[ASN][1000 genomes]
rs9286070	0.96[EUR][1000 genomes]
rs9419460	1.00[ASN][1000 genomes]
rs9419473	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9419475	0.96[EUR][1000 genomes]
rs9419539	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9419556	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9419557	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9419560	0.96[EUR][1000 genomes]
rs9419561	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9419562	0.96[EUR][1000 genomes]
rs9419564	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531919	chr10:60001-668649	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1040332	chr10:72797-244561	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1044775	chr10:72797-250662	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1047868	chr10:72797-259003	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1048232	chr10:72797-274675	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:120000-121000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr10:120000-122000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:120000-122000	Weak transcription	Fetal Lung	lung
4	chr10:120000-122200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:120000-122400	Weak transcription	Primary B cells from cord blood	blood
6	chr10:120200-121800	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:120200-122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:120200-122000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:120200-122000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:120200-122000	Weak transcription	Aorta	Aorta
11	chr10:120200-122000	Weak transcription	Liver	Liver
12	chr10:120200-122000	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:120200-122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:120200-122000	Weak transcription	Pancreas	Pancrea
15	chr10:120200-122000	Weak transcription	Psoas Muscle	Psoas
16	chr10:120200-122000	Weak transcription	Right Atrium	heart
17	chr10:120200-122000	Weak transcription	Stomach Mucosa	stomach
18	chr10:120200-122000	Weak transcription	HUVEC	blood vessel
19	chr10:120200-122000	Weak transcription	NH-A	brain
20	chr10:120200-122000	Weak transcription	NHLF	lung
21	chr10:120200-122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:120200-122200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:120200-122200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:120200-122200	Weak transcription	Brain Substantia Nigra	brain
25	chr10:120200-122200	Weak transcription	Esophagus	oesophagus
26	chr10:120200-122200	Weak transcription	Gastric	stomach
27	chr10:120200-122200	Weak transcription	Left Ventricle	heart
28	chr10:120200-122200	Weak transcription	Lung	lung
29	chr10:120200-122200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:120200-122200	Weak transcription	K562	blood
31	chr10:120200-122200	Weak transcription	NHDF-Ad	bronchial
32	chr10:120400-120800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr10:120400-121600	Weak transcription	A549	lung
34	chr10:120400-121800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:120400-121800	Weak transcription	Placenta	Placenta
36	chr10:120400-122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:120400-122000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:120400-122000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:120400-122000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:120400-122000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:120400-122000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:120400-122000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:120400-122000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr10:120400-122000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:120400-122000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:120400-122000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:120400-122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:120400-122000	Weak transcription	Adipose Nuclei	Adipose
49	chr10:120400-122000	Weak transcription	Brain Anterior Caudate	brain
50	chr10:120400-122000	Weak transcription	Colonic Mucosa	Colon

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