Variant report

Variant	rs6427132
Chromosome Location	chr1:168554689-168554690
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168553388..168555903-chr1:168558533..168560056,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17513631	0.92[CEU][hapmap]
rs2300295	0.92[CEU][hapmap]
rs6427130	0.81[CEU][hapmap]
rs6687507	0.92[CEU][hapmap]
rs6700487	0.88[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717450	0.92[CEU][hapmap]
rs7514954	0.82[AFR][1000 genomes]
rs966065	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168549600-168555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:168551200-168555200	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:168552000-168555600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:168552400-168554800	Enhancers	NHEK	skin
5	chr1:168553800-168555000	Enhancers	HSMM	muscle
6	chr1:168553800-168555200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:168553800-168555200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:168553800-168555400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:168554000-168554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:168554000-168555000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:168554000-168555000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:168554000-168555600	Enhancers	Psoas Muscle	Psoas
13	chr1:168554200-168554800	Enhancers	Aorta	Aorta
14	chr1:168554200-168554800	Flanking Active TSS	Fetal Heart	heart
15	chr1:168554200-168555000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:168554200-168555000	Enhancers	Brain Hippocampus Middle	brain
17	chr1:168554200-168555000	Enhancers	HSMMtube	muscle
18	chr1:168554200-168555000	Enhancers	Osteobl	bone
19	chr1:168554200-168555600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:168554400-168554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:168554400-168554800	Enhancers	NHDF-Ad	bronchial
22	chr1:168554400-168555000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:168554400-168555000	Enhancers	NH-A	brain
24	chr1:168554600-168555000	Enhancers	HMEC	breast

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