Variant report

Variant	rs10948793
Chromosome Location	chr6:53867307-53867308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1156379	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1156380	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12662586	0.83[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs13196004	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1325821	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2397153	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6914051	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs927795	0.88[ASN][1000 genomes]
rs9349691	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9349692	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9357783	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9370254	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9370255	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9370256	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9382274	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9395896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395900	0.90[AMR][1000 genomes];0.84[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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53852400-53867800	Weak transcription	Fetal Heart	heart
2	chr6:53862000-53870000	Weak transcription	Aorta	Aorta
3	chr6:53864000-53867800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:53864200-53867800	Weak transcription	Adipose Nuclei	Adipose
5	chr6:53864400-53874400	Weak transcription	Psoas Muscle	Psoas
6	chr6:53864400-53875000	Weak transcription	Left Ventricle	heart
7	chr6:53865200-53873200	Weak transcription	Liver	Liver
8	chr6:53865800-53868000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:53866200-53868400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:53866200-53869200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:53866400-53867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:53866400-53869000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:53866600-53867600	Enhancers	Osteobl	bone
14	chr6:53866600-53868600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:53866600-53869000	Enhancers	NHEK	skin
16	chr6:53866800-53867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:53866800-53867400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:53866800-53868600	Enhancers	HMEC	breast
19	chr6:53867000-53868800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:53867200-53867400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:53867200-53867600	Enhancers	HSMMtube	muscle
22	chr6:53867200-53869000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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