Variant report

Variant	rs12191283
Chromosome Location	chr6:150321839-150321840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11155692	0.80[EUR][1000 genomes]
rs11155693	0.80[EUR][1000 genomes]
rs13192866	0.80[EUR][1000 genomes]
rs1359342	0.90[ASN][1000 genomes]
rs1830839	0.90[ASN][1000 genomes]
rs1853666	0.91[EUR][1000 genomes]
rs1853667	0.91[EUR][1000 genomes]
rs2224893	0.80[EUR][1000 genomes]
rs35387103	0.94[ASN][1000 genomes]
rs3963990	0.96[EUR][1000 genomes]
rs6922028	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7757868	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9371624	0.97[EUR][1000 genomes]
rs9384023	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9384029	0.89[ASN][1000 genomes]
rs9384030	0.96[EUR][1000 genomes]
rs9397119	0.82[ASN][1000 genomes]
rs9397541	0.97[EUR][1000 genomes]
rs9478352	0.87[ASN][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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv970176	chr6:150319173-150343329	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island 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	chr6:150315000-150324800	Weak transcription	Dnd41	blood
2	chr6:150318200-150325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:150319000-150322600	Weak transcription	Thymus	Thymus
4	chr6:150319800-150325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:150320800-150322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:150320800-150324200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:150321000-150322000	Enhancers	GM12878-XiMat	blood
8	chr6:150321400-150322400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:150321400-150325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:150321600-150322000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:150321600-150323200	Enhancers	Fetal Thymus	thymus
12	chr6:150321600-150325400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:150321800-150322000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr6:150321800-150322200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr6:150321800-150322600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:150321800-150322800	Enhancers	Primary T cells from cord blood	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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