Variant report

Variant	rs73079819
Chromosome Location	chr1:212851089-212851090
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212844788..212847295-chr1:212849641..212851395,3	K562	blood:
2	chr1:212851040..212855618-chr1:212856353..212859707,5	MCF-7	breast:
3	chr1:212780820..212783342-chr1:212851075..212852900,2	K562	blood:
4	chr1:212843284..212846288-chr1:212848172..212851141,3	K562	blood:
5	chr1:212849753..212851701-chr1:212859553..212861463,2	K562	blood:

Variant related genes	Relation type
ENSG00000123685	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11571524	1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv160457	chr1:212847260-212854762	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212842200-212854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:212845400-212852200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:212845600-212854000	Weak transcription	A549	lung
4	chr1:212846400-212851400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:212850600-212851800	Enhancers	GM12878-XiMat	blood
6	chr1:212850600-212852200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:212850600-212852600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:212850600-212854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:212850800-212851600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:212850800-212851600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:212850800-212851800	Enhancers	Brain Substantia Nigra	brain
12	chr1:212850800-212854200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:212851000-212851200	Weak transcription	Spleen	Spleen
14	chr1:212851000-212851800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:212851000-212852800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:212851000-212853400	Enhancers	Primary monocytes fromperipheralblood	blood

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