Variant report

Variant	rs11125100
Chromosome Location	chr2:47103154-47103155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47099451..47103362-chr2:47166819..47169825,3	MCF-7	breast:
2	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
3	chr2:47075084..47076988-chr2:47102023..47103595,2	K562	blood:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11678978	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11683232	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12479390	0.87[ASN][1000 genomes]
rs13021248	0.87[ASN][1000 genomes]
rs62136789	0.84[EUR][1000 genomes]
rs6745913	0.91[ASN][1000 genomes]
rs72806509	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72806510	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7561566	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7567626	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7578781	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47094000-47104200	Weak transcription	Gastric	stomach
3	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
4	chr2:47096200-47103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
8	chr2:47098800-47106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:47099600-47106200	Enhancers	Osteobl	bone
10	chr2:47099600-47106800	Enhancers	NHLF	lung
11	chr2:47099800-47103400	Enhancers	Fetal Lung	lung
12	chr2:47099800-47103600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:47099800-47103800	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:47099800-47106200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:47100000-47103400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:47100000-47103400	Enhancers	HSMM	muscle
17	chr2:47100000-47103600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:47100000-47104600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:47100000-47104600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:47100000-47106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47100000-47106400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:47100200-47104800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:47100400-47105200	Enhancers	Fetal Heart	heart
24	chr2:47101200-47104200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:47101200-47104200	Weak transcription	Colonic Mucosa	Colon
26	chr2:47101200-47104200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:47101200-47104200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:47101200-47104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:47101200-47105200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:47101200-47105600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:47101200-47105800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:47101200-47106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:47101400-47103200	Weak transcription	Small Intestine	intestine
34	chr2:47101400-47104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:47101400-47104200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:47101400-47104200	Weak transcription	Esophagus	oesophagus
37	chr2:47101400-47104800	Weak transcription	Spleen	Spleen
38	chr2:47101400-47105400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:47101400-47106600	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:47101600-47103200	Weak transcription	Stomach Mucosa	stomach
41	chr2:47101600-47103800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:47101600-47104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:47101600-47104000	Weak transcription	NHEK	skin
44	chr2:47101600-47104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:47101600-47104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:47101600-47104200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:47101600-47104200	Enhancers	A549	lung
48	chr2:47101600-47105400	Weak transcription	Brain Substantia Nigra	brain
49	chr2:47101800-47103800	Weak transcription	HMEC	breast
50	chr2:47101800-47104000	Weak transcription	Duodenum Mucosa	Duodenum

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