Variant report

Variant	rs4369231
Chromosome Location	chr1:210772442-210772443
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	chr1:210545005..210547704-chr1:210772140..210773700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10779539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119545	1.00[AMR][1000 genomes]
rs11119548	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12145420	1.00[AMR][1000 genomes]
rs4240838	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4326622	1.00[AMR][1000 genomes]
rs4357526	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4402133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4405138	1.00[AMR][1000 genomes]
rs4528195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4565714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845056	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845057	1.00[AMR][1000 genomes]
rs4845058	1.00[AMR][1000 genomes]
rs4845059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845060	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4845061	1.00[AMR][1000 genomes]
rs4845062	1.00[AMR][1000 genomes]
rs4845063	1.00[AMR][1000 genomes]
rs4845064	1.00[AMR][1000 genomes]
rs6540608	1.00[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540609	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6682840	1.00[AMR][1000 genomes]
rs6693375	1.00[AMR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4369231	G0S2	cis	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210770000-210774000	Enhancers	NHLF	lung
2	chr1:210770200-210774000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:210770400-210772600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:210770400-210773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:210771000-210774600	Enhancers	HSMM	muscle
6	chr1:210771200-210775000	Enhancers	HSMMtube	muscle
7	chr1:210771200-210775800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:210771400-210773400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:210771400-210773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:210771400-210774400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:210771600-210773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:210771600-210773800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:210771600-210774800	Enhancers	NHDF-Ad	bronchial
14	chr1:210771800-210773800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:210771800-210773800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:210771800-210773800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:210772000-210773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:210772000-210773400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:210772000-210773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:210772000-210774000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:210772000-210774200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:210772000-210774400	Enhancers	Osteobl	bone
23	chr1:210772200-210773600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210772200-210774000	Enhancers	A549	lung
25	chr1:210772200-210774400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:210772200-210774400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:210772400-210773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:210772400-210773600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:210772400-210773600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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