Variant report

Variant	rs11119452
Chromosome Location	chr1:210432286-210432287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210430018..210432392-chr1:210435248..210436985,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12116648	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12144421	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55777740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56375673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210425400-210433000	Weak transcription	Right Atrium	heart
2	chr1:210425600-210435400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:210425800-210435400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:210426200-210435200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:210426400-210433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210427600-210433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:210427800-210433000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:210428200-210439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:210430600-210439200	Enhancers	Fetal Stomach	stomach
10	chr1:210430800-210433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:210430800-210433200	Enhancers	NHDF-Ad	bronchial
12	chr1:210430800-210434000	Enhancers	Colon Smooth Muscle	Colon
13	chr1:210430800-210436200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:210430800-210439600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:210431000-210433800	Enhancers	Osteobl	bone
16	chr1:210431000-210434200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:210431200-210433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:210431200-210434000	Enhancers	NH-A	brain
19	chr1:210431400-210433000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:210431400-210433600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:210431600-210432400	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:210431600-210432600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:210431600-210433000	Weak transcription	Esophagus	oesophagus
24	chr1:210431600-210433000	Weak transcription	Lung	lung
25	chr1:210431600-210435000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:210431600-210435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:210431600-210435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:210431600-210435800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:210431600-210438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:210431800-210432800	Weak transcription	Stomach Mucosa	stomach
31	chr1:210431800-210433000	Weak transcription	HSMM	muscle
32	chr1:210431800-210435200	Weak transcription	Aorta	Aorta
33	chr1:210431800-210435200	Weak transcription	NHEK	skin
34	chr1:210431800-210435200	Weak transcription	NHLF	lung
35	chr1:210431800-210435800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:210432000-210433000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:210432000-210433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:210432000-210435000	Weak transcription	Fetal Kidney	kidney
39	chr1:210432000-210435000	Weak transcription	HMEC	breast
40	chr1:210432000-210435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:210432200-210432400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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