Variant report

Variant	rs6488255
Chromosome Location	chr12:10251020-10251021
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	chr12:10248204..10251036-chr12:10254144..10255657,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10772233	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845030	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845032	0.97[ASN][1000 genomes]
rs11053575	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053589	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371884	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12819522	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1814641	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2200743	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3912643	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488253	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7139405	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953886	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7961436	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961483	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7969125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7970859	0.90[ASN][1000 genomes]
rs7971593	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7975127	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980213	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6488255	TAS2R43	cis	cerebellum	SCAN
rs6488255	C12orf53	cis	cerebellum	SCAN
rs6488255	BCL2L14	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:10245800-10251800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:10247800-10251600	Active TSS	Adipose Nuclei	Adipose
4	chr12:10247800-10252400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:10248800-10251200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:10248800-10251600	Active TSS	Left Ventricle	heart
7	chr12:10248800-10251600	Active TSS	Psoas Muscle	Psoas
8	chr12:10249000-10251600	Active TSS	Right Ventricle	heart
9	chr12:10249000-10252000	Active TSS	Right Atrium	heart
10	chr12:10249400-10251400	Weak transcription	Lung	lung
11	chr12:10249600-10253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:10250200-10251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:10250200-10251400	Weak transcription	Fetal Lung	lung
14	chr12:10250200-10253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:10250400-10251200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:10250400-10251200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:10250400-10251400	Active TSS	HUVEC	blood vessel
18	chr12:10250600-10252400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:10250600-10254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:10250800-10251400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:10251000-10251200	Active TSS	Placenta	Placenta
22	chr12:10251000-10251400	Active TSS	Fetal Muscle Leg	muscle
23	chr12:10251000-10251600	Active TSS	Fetal Thymus	thymus
24	chr12:10251000-10251600	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr12:10251000-10251800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:10251000-10252000	Enhancers	Fetal Stomach	stomach
27	chr12:10251000-10254600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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