Variant report

Variant	rs518863
Chromosome Location	chr11:120053300-120053301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120051503..120053390-chr11:120056231..120058404,2	MCF-7	breast:
2	chr11:120049376..120051724-chr11:120052135..120053974,2	K562	blood:
3	chr11:120043093..120043613-chr11:120053019..120053889,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12291190	0.89[ASN][1000 genomes]
rs2508491	0.96[ASN][1000 genomes]
rs2508492	0.96[ASN][1000 genomes]
rs2511023	0.89[ASN][1000 genomes]
rs471776	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs488615	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs490819	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546441	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547897	0.96[ASN][1000 genomes]
rs548215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs551843	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561218	0.96[ASN][1000 genomes]
rs571854	0.96[ASN][1000 genomes]
rs574563	0.96[ASN][1000 genomes]
rs579368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
2	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
5	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
8	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:120049600-120053800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
11	chr11:120049800-120054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120049800-120054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:120050000-120053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:120050000-120053800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:120050400-120054200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:120051000-120053800	Enhancers	Liver	Liver
17	chr11:120051000-120054200	Enhancers	Spleen	Spleen
18	chr11:120051200-120053400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:120051200-120053800	Enhancers	Brain Hippocampus Middle	brain
20	chr11:120051400-120053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:120051400-120053600	Enhancers	Fetal Kidney	kidney
22	chr11:120051600-120054200	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:120051600-120054200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:120051600-120055400	Weak transcription	Gastric	stomach
25	chr11:120051600-120057600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:120051800-120053800	Weak transcription	Right Ventricle	heart
27	chr11:120051800-120054600	Enhancers	Pancreas	Pancrea
28	chr11:120051800-120057000	Weak transcription	HMEC	breast
29	chr11:120051800-120057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:120052000-120053400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120052000-120054200	Enhancers	Brain Germinal Matrix	brain
32	chr11:120052000-120055600	Weak transcription	Osteobl	bone
33	chr11:120052000-120055800	Weak transcription	Fetal Brain Male	brain
34	chr11:120052000-120057200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:120052000-120057400	Weak transcription	NH-A	brain
36	chr11:120052200-120053600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:120052200-120053800	Weak transcription	NHDF-Ad	bronchial
38	chr11:120052200-120054200	Enhancers	Brain Substantia Nigra	brain
39	chr11:120052200-120058200	Weak transcription	Fetal Brain Female	brain
40	chr11:120052400-120055600	Enhancers	Ovary	ovary
41	chr11:120052600-120054600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:120052600-120055600	Enhancers	Adipose Nuclei	Adipose
43	chr11:120052600-120055600	Enhancers	Fetal Muscle Leg	muscle
44	chr11:120052600-120058200	Enhancers	Fetal Lung	lung
45	chr11:120052800-120053400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:120052800-120053400	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:120052800-120053800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:120052800-120054800	Enhancers	Colon Smooth Muscle	Colon
49	chr11:120053000-120053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:120053000-120053600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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