Variant report

Variant	rs7546409
Chromosome Location	chr1:77871502-77871503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10493605	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs10873937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12131772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1498404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532507	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs1532511	1.00[ASN][1000 genomes]
rs17100524	0.84[ASN][1000 genomes]
rs34277277	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844166	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72681629	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7512893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9633480	0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:77845200-77878000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:77845200-77878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:77861600-77871800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77863200-77871800	Weak transcription	Aorta	Aorta
5	chr1:77865600-77877200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:77865800-77871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77867400-77871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:77870400-77873000	Enhancers	Brain Angular Gyrus	brain
9	chr1:77870600-77872800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:77870800-77872400	Enhancers	Brain Anterior Caudate	brain
11	chr1:77870800-77872600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:77870800-77872800	Enhancers	Brain Substantia Nigra	brain
13	chr1:77870800-77873600	Enhancers	NHDF-Ad	bronchial
14	chr1:77871000-77871600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:77871000-77871600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:77871000-77872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:77871000-77872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:77871000-77873600	Enhancers	HSMM	muscle
19	chr1:77871200-77872000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:77871200-77872600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:77871200-77872600	Enhancers	HSMMtube	muscle
22	chr1:77871400-77877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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