Variant report

Variant	rs12808181
Chromosome Location	chr11:120094400-120094401
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	chr11:120088424..120091961-chr11:120094010..120097522,6	K562	blood:
2	chr11:120081505..120083755-chr11:120092635..120094681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10892550	0.83[ASN][1000 genomes]
rs10892551	1.00[ASN][1000 genomes]
rs11217770	1.00[ASN][1000 genomes]
rs12786658	1.00[ASN][1000 genomes]
rs12793354	1.00[ASN][1000 genomes]
rs873059	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882856	0.81[AMR][1000 genomes];0.88[EUR][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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
4	chr11:120086400-120097000	Weak transcription	NHEK	skin
5	chr11:120086600-120095800	Weak transcription	NH-A	brain
6	chr11:120088400-120094400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:120089800-120095600	Weak transcription	Lung	lung
8	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:120090200-120095800	Weak transcription	Fetal Heart	heart
10	chr11:120090400-120095400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120090800-120095400	Weak transcription	Fetal Lung	lung
12	chr11:120090800-120095600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
14	chr11:120091000-120094600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:120091000-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:120091000-120096600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:120091000-120097400	Weak transcription	NHLF	lung
18	chr11:120091000-120097600	Genic enhancers	Liver	Liver
19	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:120091200-120095400	Weak transcription	HSMM	muscle
21	chr11:120091200-120096800	Enhancers	Adipose Nuclei	Adipose
22	chr11:120091200-120097000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:120091400-120095000	Strong transcription	Fetal Stomach	stomach
24	chr11:120091400-120095400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:120091600-120095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:120091800-120095200	Weak transcription	Placenta	Placenta
27	chr11:120091800-120097600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:120092000-120094600	Weak transcription	Left Ventricle	heart
29	chr11:120092000-120094600	Enhancers	Spleen	Spleen
30	chr11:120092000-120095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:120092200-120095600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:120092200-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:120092400-120094400	Weak transcription	HepG2	liver
34	chr11:120092400-120094600	Weak transcription	Ovary	ovary
35	chr11:120092600-120095600	Weak transcription	GM12878-XiMat	blood
36	chr11:120092600-120096400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:120092800-120094400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:120092800-120094400	Weak transcription	Pancreas	Pancrea
39	chr11:120092800-120094600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:120092800-120095000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:120092800-120095400	Weak transcription	Fetal Thymus	thymus
42	chr11:120092800-120095600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:120092800-120095600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:120092800-120095800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:120092800-120097000	Weak transcription	Gastric	stomach
46	chr11:120092800-120102000	Weak transcription	Brain Angular Gyrus	brain
47	chr11:120093000-120095400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:120093000-120095400	Weak transcription	Colonic Mucosa	Colon
49	chr11:120093000-120095400	Strong transcription	Fetal Intestine Large	intestine
50	chr11:120093000-120095600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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