Variant report

Variant	rs4495704
Chromosome Location	chr1:210772952-210772953
allele	C/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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10746429	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779541	1.00[JPT][hapmap]
rs12117119	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12120216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121562	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123110	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124591	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127035	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128590	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129947	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34023395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539121	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497872	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348784	1.00[JPT][hapmap]
rs6540610	1.00[JPT][hapmap]
rs6683265	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528786	1.00[JPT][hapmap]

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:28 , 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	chr1:210770400-210773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:210771000-210774600	Enhancers	HSMM	muscle
5	chr1:210771200-210775000	Enhancers	HSMMtube	muscle
6	chr1:210771200-210775800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:210771400-210773400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:210771400-210773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:210771400-210774400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:210771600-210773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:210771600-210773800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:210771600-210774800	Enhancers	NHDF-Ad	bronchial
13	chr1:210771800-210773800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:210771800-210773800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:210771800-210773800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:210772000-210773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:210772000-210773400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:210772000-210773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210772000-210774000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:210772000-210774200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:210772000-210774400	Enhancers	Osteobl	bone
22	chr1:210772200-210773600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:210772200-210774000	Enhancers	A549	lung
24	chr1:210772200-210774400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:210772200-210774400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:210772400-210773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:210772400-210773600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:210772400-210773600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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