Variant report

Variant	rs875284
Chromosome Location	chr1:227635739-227635740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10799414	1.00[JPT][hapmap]
rs10799420	0.91[ASN][1000 genomes]
rs10799421	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10916130	1.00[JPT][hapmap]
rs10916148	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10916150	0.91[ASN][1000 genomes]
rs12128670	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390403	0.85[CEU][hapmap]
rs1495850	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2814086	0.85[CEU][hapmap]
rs2819522	0.80[CEU][hapmap]
rs2819524	0.91[ASN][1000 genomes]
rs61833893	0.91[ASN][1000 genomes]
rs61833894	0.91[ASN][1000 genomes]
rs6664147	1.00[JPT][hapmap]
rs7549565	0.87[ASN][1000 genomes]
rs9628651	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs875284	ZNF678	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227630000-227636600	Weak transcription	Right Ventricle	heart
2	chr1:227634800-227635800	Enhancers	Left Ventricle	heart
3	chr1:227635000-227635800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr1:227635000-227635800	Enhancers	Placenta	Placenta
5	chr1:227635200-227635800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:227635200-227635800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:227635400-227635800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:227635400-227635800	Enhancers	Fetal Kidney	kidney
9	chr1:227635400-227635800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr1:227635600-227635800	Enhancers	Adipose Nuclei	Adipose
11	chr1:227635600-227635800	Enhancers	Brain Anterior Caudate	brain
12	chr1:227635600-227635800	Enhancers	Lung	lung
13	chr1:227635600-227635800	Enhancers	Osteobl	bone
14	chr1:227635600-227636000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:227635600-227636000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:227635600-227636000	Enhancers	HUVEC	blood vessel
17	chr1:227635600-227636800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:227635600-227639200	Weak transcription	Right Atrium	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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