Variant report

Variant	rs2216471
Chromosome Location	chr12:46100461-46100462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11183170	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183175	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12582799	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1558982	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1558983	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2216470	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768657	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7958600	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979398	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs978689	0.96[EUR][1000 genomes];0.93[ASN][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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46095800-46106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:46098200-46100600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:46098200-46106000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:46098800-46101400	Enhancers	Fetal Heart	heart
7	chr12:46099000-46103400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:46099600-46100800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:46099600-46101000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:46099600-46105600	Weak transcription	Left Ventricle	heart
11	chr12:46099600-46113000	Weak transcription	Psoas Muscle	Psoas
12	chr12:46099600-46115600	Weak transcription	Ovary	ovary
13	chr12:46099800-46100800	Weak transcription	Brain Anterior Caudate	brain
14	chr12:46100000-46102400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:46100200-46100600	Weak transcription	Liver	Liver
16	chr12:46100400-46100600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:46100400-46101400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:46100400-46101400	Enhancers	Brain Substantia Nigra	brain

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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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