Variant report

Variant	rs12369121
Chromosome Location	chr12:41680222-41680223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10506184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10879844	0.89[EUR][1000 genomes]
rs10879924	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180331	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[EUR][1000 genomes]
rs11180534	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611769	0.88[CEU][hapmap]
rs11612056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11614877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17129192	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1897231	0.89[CHD][hapmap]
rs2897229	0.88[YRI][hapmap]
rs7311069	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[EUR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41671200-41684600	Weak transcription	Ovary	ovary
2	chr12:41679800-41682600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:41680000-41680400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:41680000-41680400	Enhancers	HepG2	liver
5	chr12:41680000-41681200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:41680000-41682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:41680000-41682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:41680200-41680400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41680200-41680400	Enhancers	Brain Germinal Matrix	brain
10	chr12:41680200-41680400	Enhancers	Fetal Stomach	stomach
11	chr12:41680200-41680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:41680200-41680600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:41680200-41680600	Enhancers	Aorta	Aorta
14	chr12:41680200-41680600	Enhancers	Colon Smooth Muscle	Colon
15	chr12:41680200-41682200	Enhancers	Fetal Lung	lung

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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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