Variant report

Variant	rs13282248
Chromosome Location	chr8:67046982-67046983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67046137..67048325-chr8:67052622..67055145,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10100725	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10113415	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10957366	0.94[ASN][1000 genomes]
rs11778990	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11780171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993997	0.94[ASN][1000 genomes]
rs11997605	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13252033	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13252592	0.95[JPT][hapmap]
rs13253129	0.81[ASN][1000 genomes]
rs13253380	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13256041	0.81[AMR][1000 genomes]
rs13257752	0.86[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs13261922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13262438	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13264487	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13266516	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13274510	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276881	0.83[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13279522	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs16932626	0.92[EUR][1000 genomes]
rs1870394	0.86[CHB][hapmap]
rs2004424	0.92[EUR][1000 genomes]
rs28825143	0.82[ASN][1000 genomes]
rs3210836	0.92[EUR][1000 genomes]
rs4262310	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4419797	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs4628244	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs4737225	0.92[EUR][1000 genomes]
rs6159	0.81[ASN][1000 genomes]
rs6472246	0.86[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6472247	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472248	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6990045	0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6990839	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6999100	0.91[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.86[ASN][1000 genomes]
rs7006611	0.94[JPT][hapmap]
rs7009913	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010033	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7014971	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016922	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017358	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71515499	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7824630	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7825257	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7827531	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7835214	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7843077	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs884839	0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9298109	0.91[JPT][hapmap]
rs9298110	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
2	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
5	chr8:67042400-67047200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:67043400-67047400	Genic enhancers	HSMM	muscle
8	chr8:67044000-67049200	Weak transcription	Right Atrium	heart
9	chr8:67044000-67057800	Weak transcription	Liver	Liver
10	chr8:67044200-67049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:67045400-67049400	Weak transcription	Psoas Muscle	Psoas
12	chr8:67045600-67047000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:67045600-67047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:67045600-67047000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:67045600-67047200	Weak transcription	Left Ventricle	heart
16	chr8:67045600-67047200	Weak transcription	Right Ventricle	heart
17	chr8:67045600-67049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:67045600-67049400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:67045800-67049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:67046000-67047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:67046000-67049000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:67046000-67049200	Weak transcription	HMEC	breast
23	chr8:67046000-67049200	Weak transcription	NHEK	skin
24	chr8:67046000-67049400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:67046200-67047000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:67046200-67047000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:67046200-67047800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:67046200-67049200	Weak transcription	NH-A	brain
29	chr8:67046200-67049600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:67046400-67047000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:67046400-67049000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr8:67046400-67049200	Weak transcription	NHLF	lung
33	chr8:67046600-67047000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:67046600-67051200	Weak transcription	A549	lung
35	chr8:67046800-67047000	Weak transcription	HSMMtube	muscle
36	chr8:67046800-67047600	Enhancers	Fetal Heart	heart
37	chr8:67046800-67049200	Weak transcription	Osteobl	bone
38	chr8:67046800-67049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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