Variant report

Variant	rs4405138
Chromosome Location	chr1:210771142-210771143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210770711..210771663-chr1:211306582..211307099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234233	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10779539	1.00[AMR][1000 genomes]
rs10863846	1.00[AMR][1000 genomes]
rs11119545	1.00[AMR][1000 genomes]
rs11119548	1.00[AMR][1000 genomes]
rs12145420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12728928	0.91[YRI][hapmap]
rs4240838	1.00[AMR][1000 genomes]
rs4326622	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4357526	1.00[AMR][1000 genomes]
rs4369231	1.00[AMR][1000 genomes]
rs4402133	1.00[AMR][1000 genomes]
rs4528195	1.00[AMR][1000 genomes]
rs4565714	1.00[AMR][1000 genomes]
rs4845056	1.00[AMR][1000 genomes]
rs4845057	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845059	1.00[AMR][1000 genomes]
rs4845060	1.00[AMR][1000 genomes]
rs4845061	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845063	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845064	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540608	1.00[AMR][1000 genomes]
rs6540609	1.00[AMR][1000 genomes]
rs6682840	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682919	0.93[YRI][hapmap]
rs6693375	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9699912	0.82[AFR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873149	chr1:210749312-210793972	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210756200-210771800	Weak transcription	Left Ventricle	heart
2	chr1:210761400-210771600	Weak transcription	Gastric	stomach
3	chr1:210769800-210771200	Flanking Active TSS	A549	lung
4	chr1:210770000-210774000	Enhancers	NHLF	lung
5	chr1:210770200-210771200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:210770200-210774000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:210770400-210771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:210770400-210771400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:210770400-210771400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:210770400-210772200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:210770400-210772200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:210770400-210772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:210770400-210772600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:210770400-210773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:210770600-210771400	Enhancers	NHEK	skin
16	chr1:210770600-210772000	Enhancers	Placenta	Placenta
17	chr1:210770600-210772200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:210770600-210772200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:210770600-210772400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:210770600-210772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:210770600-210772400	Enhancers	HMEC	breast
22	chr1:210770600-210772400	Enhancers	NH-A	brain
23	chr1:210770800-210771200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:210770800-210771200	Enhancers	Lung	lung
25	chr1:210770800-210771400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:210770800-210771400	Enhancers	Brain Hippocampus Middle	brain
27	chr1:210770800-210771800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:210770800-210772000	Enhancers	Esophagus	oesophagus
29	chr1:210770800-210772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:210770800-210772200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:210770800-210772200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:210770800-210772200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:210770800-210772200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:210770800-210772200	Enhancers	K562	blood
35	chr1:210770800-210772400	Enhancers	Hela-S3	cervix
36	chr1:210771000-210771200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:210771000-210771200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:210771000-210771200	Flanking Active TSS	HSMMtube	muscle
39	chr1:210771000-210771200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr1:210771000-210771400	Enhancers	Brain Angular Gyrus	brain
41	chr1:210771000-210771600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:210771000-210771600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:210771000-210771600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:210771000-210771800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:210771000-210771800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:210771000-210772000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210771000-210772000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:210771000-210772000	Flanking Active TSS	Osteobl	bone
49	chr1:210771000-210774600	Enhancers	HSMM	muscle

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