Variant report

Variant	rs11054956
Chromosome Location	chr12:12683485-12683486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12682433..12684454-chr12:12714001..12716465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11054935	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11054957	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609905	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11612508	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12368847	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35045758	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523022	chr12:12673551-12688181	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
2	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:12664000-12690400	Weak transcription	NHLF	lung
5	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
6	chr12:12665000-12685600	Weak transcription	HMEC	breast
7	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:12667400-12686400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:12671400-12686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:12671400-12686200	Weak transcription	Fetal Stomach	stomach
11	chr12:12672800-12691200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:12673000-12685200	Weak transcription	NHEK	skin
13	chr12:12673000-12690200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:12674200-12691200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:12674400-12685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:12674600-12686200	Weak transcription	NH-A	brain
17	chr12:12677200-12686200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:12677400-12686200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:12677400-12686200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:12677400-12686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:12677600-12686200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:12679400-12683800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:12679600-12683600	Enhancers	Fetal Intestine Large	intestine
24	chr12:12679600-12686400	Enhancers	Fetal Heart	heart
25	chr12:12679800-12683600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:12680000-12686800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12680200-12686200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:12680800-12683600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:12681200-12685600	Weak transcription	Placenta	Placenta
30	chr12:12681200-12685800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:12681200-12686200	Weak transcription	Aorta	Aorta
32	chr12:12681200-12686200	Weak transcription	Ovary	ovary
33	chr12:12681200-12686400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:12681200-12686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:12681200-12688000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:12681400-12683800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:12681400-12685600	Weak transcription	Esophagus	oesophagus
38	chr12:12681400-12685600	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:12681400-12685600	Weak transcription	Left Ventricle	heart
40	chr12:12681400-12685600	Weak transcription	Right Ventricle	heart
41	chr12:12681400-12686200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:12681400-12686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:12681400-12686200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:12681400-12686200	Weak transcription	Colonic Mucosa	Colon
45	chr12:12681400-12686200	Weak transcription	Fetal Lung	lung
46	chr12:12681400-12686200	Weak transcription	Fetal Thymus	thymus
47	chr12:12681400-12686200	Weak transcription	Right Atrium	heart
48	chr12:12681400-12686200	Weak transcription	A549	lung
49	chr12:12681400-12686400	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:12681400-12686400	Weak transcription	Brain Inferior Temporal Lobe	brain

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