Variant report

Variant	rs12308393
Chromosome Location	chr12:49514629-49514630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49451725..49456074-chr12:49512465..49516431,4	K562	blood:
2	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
3	chr12:49485636..49486563-chr12:49514604..49515130,2	MCF-7	breast:
4	chr12:49452329..49460168-chr12:49513542..49518280,7	MCF-7	breast:
5	chr12:49513765..49517926-chr12:49521297..49525488,7	MCF-7	breast:
6	chr12:49491299..49492409-chr12:49514605..49515615,7	MCF-7	breast:
7	chr12:49452360..49456099-chr12:49513775..49516645,4	MCF-7	breast:
8	chr12:49490414..49491055-chr12:49514552..49515113,2	MCF-7	breast:
9	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
10	chr12:49481760..49482733-chr12:49514622..49515630,10	MCF-7	breast:
11	chr12:49511019..49515271-chr12:49524001..49527437,7	MCF-7	breast:
12	chr12:49450333..49452473-chr12:49512051..49515043,2	K562	blood:
13	chr12:49497340..49500289-chr12:49513693..49516248,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000257346	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10083069	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10160974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11168879	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12299500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303622	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12315499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318545	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12321116	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3842281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61730859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49505400-49514800	Weak transcription	HSMM	muscle
2	chr12:49505400-49521000	Weak transcription	Spleen	Spleen
3	chr12:49508400-49514800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:49508400-49515200	Weak transcription	Osteobl	bone
5	chr12:49510800-49514800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:49511400-49520600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:49511600-49514800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:49511600-49520800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49511600-49521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:49511800-49514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:49513600-49520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:49514600-49514800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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