Variant report

Variant	rs12122210
Chromosome Location	chr1:77871803-77871804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10873934	1.00[CHD][hapmap]
rs10873938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10873940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12137455	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12137672	0.82[EUR][1000 genomes]
rs61783076	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	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	chr1:77865600-77877200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:77870400-77873000	Enhancers	Brain Angular Gyrus	brain
5	chr1:77870600-77872800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:77870800-77872400	Enhancers	Brain Anterior Caudate	brain
7	chr1:77870800-77872600	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:77870800-77872800	Enhancers	Brain Substantia Nigra	brain
9	chr1:77870800-77873600	Enhancers	NHDF-Ad	bronchial
10	chr1:77871000-77872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:77871000-77872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:77871000-77873600	Enhancers	HSMM	muscle
13	chr1:77871200-77872000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:77871200-77872600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:77871200-77872600	Enhancers	HSMMtube	muscle
16	chr1:77871400-77877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:77871600-77872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:77871800-77872200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:77871800-77872400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:77871800-77872600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:77871800-77872600	Enhancers	Aorta	Aorta
22	chr1:77871800-77872600	Enhancers	NHLF	lung

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