Variant report

Variant	rs12303146
Chromosome Location	chr12:86628575-86628576
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	chr12:86626187..86628759-chr12:86629956..86631967,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11103901	0.88[AFR][1000 genomes]
rs11103902	0.88[AFR][1000 genomes]
rs11103905	0.88[AFR][1000 genomes]
rs11103906	0.88[AFR][1000 genomes]
rs11103907	0.88[AFR][1000 genomes]
rs12298208	0.88[AFR][1000 genomes]
rs12298422	0.88[AFR][1000 genomes]
rs12299772	0.88[AFR][1000 genomes]
rs12299950	1.00[AFR][1000 genomes]
rs12304625	0.83[AFR][1000 genomes]
rs12305255	0.80[AFR][1000 genomes]
rs12305480	1.00[AFR][1000 genomes]
rs12306455	0.88[AFR][1000 genomes]
rs12306583	0.83[AFR][1000 genomes]
rs12308711	1.00[AFR][1000 genomes]
rs12309297	0.88[AFR][1000 genomes]
rs12311208	1.00[AFR][1000 genomes]
rs12315031	0.88[AFR][1000 genomes]
rs12318124	1.00[AFR][1000 genomes]
rs12318727	1.00[AFR][1000 genomes]
rs12321412	0.84[AFR][1000 genomes]
rs61949045	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86626400-86629000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:86627200-86628600	Weak transcription	Brain Germinal Matrix	brain
3	chr12:86627400-86629200	Weak transcription	Fetal Heart	heart
4	chr12:86627800-86629400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:86628000-86629400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:86628200-86628600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:86628200-86628600	Enhancers	Brain Substantia Nigra	brain
8	chr12:86628200-86628600	Enhancers	Fetal Brain Female	brain
9	chr12:86628400-86628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:86628400-86631600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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