Variant report

Variant	rs2454328
Chromosome Location	chr1:77957236-77957237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12731121	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12732561	0.86[EUR][1000 genomes]
rs12746354	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12756133	0.84[EUR][1000 genomes]
rs12760589	0.86[EUR][1000 genomes]
rs13376422	0.90[EUR][1000 genomes]
rs17380852	0.85[EUR][1000 genomes]
rs1909203	0.81[AFR][1000 genomes]
rs2647496	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2647497	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35254623	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35635429	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35883964	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4949803	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66538606	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67045981	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72681697	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 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	chr1:77940600-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:77945400-77958600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:77945800-77961600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:77954800-77958600	Enhancers	Brain Substantia Nigra	brain
6	chr1:77955400-77958200	Enhancers	Fetal Brain Male	brain
7	chr1:77955800-77964400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:77956000-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:77956000-77961600	Weak transcription	NHLF	lung
10	chr1:77956000-77964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:77956200-77957400	Weak transcription	Brain Angular Gyrus	brain
12	chr1:77956200-77958000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:77956200-77958000	Weak transcription	HSMM	muscle
14	chr1:77956200-77958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:77956200-77958600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:77956200-77959000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:77956200-77959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:77956200-77961600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:77956200-77964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:77956200-77964200	Weak transcription	NHDF-Ad	bronchial
21	chr1:77956200-77964400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:77956200-77975600	Weak transcription	HSMMtube	muscle
23	chr1:77956400-77957800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:77956600-77957800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:77956600-77958200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:77956800-77957800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:77956800-77958000	Weak transcription	Brain Anterior Caudate	brain

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