Variant report

Variant	rs12746354
Chromosome Location	chr1:77940542-77940543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12731121	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12732561	0.81[EUR][1000 genomes]
rs12733666	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12756133	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12760589	0.81[EUR][1000 genomes]
rs13376422	0.85[EUR][1000 genomes]
rs17380852	0.80[EUR][1000 genomes]
rs2454328	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2647497	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35254623	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35635429	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35883964	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4949803	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66538606	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67045981	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72681697	0.81[EUR][1000 genomes]

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	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
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3341740	chr1:77940089-77942287	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77934200-77948800	Weak transcription	Right Atrium	heart
5	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:77935800-77940600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:77935800-77941400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:77937000-77940600	Strong transcription	Primary T cells from cord blood	blood
11	chr1:77938200-77948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:77938400-77940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:77939000-77940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77939200-77945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77939600-77940600	Enhancers	Brain Hippocampus Middle	brain
16	chr1:77939600-77940600	Enhancers	Fetal Stomach	stomach
17	chr1:77940200-77941400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:77940200-77941400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:77940200-77943600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:77940200-77955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:77940400-77941400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:77940400-77941400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:77940400-77941400	Weak transcription	Osteobl	bone
24	chr1:77940400-77943400	Weak transcription	NHDF-Ad	bronchial
25	chr1:77940400-77945400	Weak transcription	HSMM	muscle
26	chr1:77940400-77946400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:77940400-77946800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:77940400-77954800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:77940400-77955400	Weak transcription	NHLF	lung

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