Variant report

Variant	rs11168258
Chromosome Location	chr12:48219826-48219827
allele	C/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	ESR1	chr12:48219709-48220710	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr12:48219705-48220701	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr12:48219643-48220710	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr12:48219776-48220607	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr12:48218429-48221262	ECC-1	luminal epithelium:	n/a	chr12:48218731-48218741

Variant related genes	Relation type
ENSG00000257488	TF binding region

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

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

rs_ID	r²[population]
rs11168256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168257	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574052	1.00[ASN][1000 genomes]
rs12721362	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17721101	1.00[ASN][1000 genomes]
rs55713656	1.00[ASN][1000 genomes]
rs55913294	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73109811	1.00[ASN][1000 genomes]
rs7487602	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487637	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS 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	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48214400-48221400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:48214400-48226400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:48214800-48221400	Enhancers	Esophagus	oesophagus
4	chr12:48215000-48220800	Enhancers	Left Ventricle	heart
5	chr12:48215000-48220800	Enhancers	Right Ventricle	heart
6	chr12:48215000-48221600	Enhancers	Right Atrium	heart
7	chr12:48215000-48224600	Enhancers	Primary T cells from cord blood	blood
8	chr12:48215000-48224800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:48215200-48220600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:48215200-48222800	Enhancers	Colon Smooth Muscle	Colon
11	chr12:48215200-48223800	Enhancers	Adipose Nuclei	Adipose
12	chr12:48215200-48224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:48215400-48220600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:48215400-48221200	Enhancers	HSMMtube	muscle
15	chr12:48215400-48221800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:48215400-48221800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:48215400-48222000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:48215400-48222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:48215800-48222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:48215800-48222800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48215800-48224200	Enhancers	NHDF-Ad	bronchial
22	chr12:48216000-48220400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:48216000-48220600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:48216000-48222000	Weak transcription	Fetal Kidney	kidney
25	chr12:48216000-48222400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:48216000-48223600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:48216400-48221000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:48216400-48222200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:48216600-48222200	Weak transcription	Fetal Intestine Large	intestine
30	chr12:48216600-48222400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:48216800-48220400	Weak transcription	Psoas Muscle	Psoas
32	chr12:48216800-48222000	Weak transcription	NHLF	lung
33	chr12:48216800-48222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:48216800-48222400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:48217000-48221400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:48217000-48226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:48217200-48222000	Weak transcription	Fetal Lung	lung
38	chr12:48217200-48222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:48217400-48220800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:48217400-48223400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:48217600-48221000	Enhancers	A549	lung
42	chr12:48217800-48220000	Weak transcription	Osteobl	bone
43	chr12:48217800-48220200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr12:48217800-48220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:48217800-48220600	Enhancers	Stomach Mucosa	stomach
46	chr12:48217800-48221000	Enhancers	HMEC	breast
47	chr12:48217800-48221400	Enhancers	NHEK	skin
48	chr12:48217800-48222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:48218000-48220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48218000-48223600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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