Variant report

Variant	rs1912814
Chromosome Location	chr1:220474636-220474637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
3	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
4	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2102569	0.93[AFR][1000 genomes]
rs6669267	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6677514	0.93[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220473200-220474800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:220473400-220474800	Enhancers	HUVEC	blood vessel
3	chr1:220473400-220475200	Enhancers	NH-A	brain
4	chr1:220473400-220475400	Enhancers	NHDF-Ad	bronchial
5	chr1:220473800-220474800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:220473800-220475000	Enhancers	Fetal Heart	heart
7	chr1:220474000-220474800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:220474000-220475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:220474000-220475000	Enhancers	Hela-S3	cervix
10	chr1:220474200-220476200	Weak transcription	Fetal Brain Female	brain
11	chr1:220474400-220475000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:220474400-220475000	Enhancers	Adipose Nuclei	Adipose
13	chr1:220474400-220475200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:220474400-220475200	Enhancers	K562	blood
15	chr1:220474400-220475200	Enhancers	Osteobl	bone
16	chr1:220474400-220475400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:220474600-220474800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:220474600-220475000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:220474600-220475000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:220474600-220475000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:220474600-220475200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:220474600-220475400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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