Variant report

Variant	rs4949718
Chromosome Location	chr1:76899464-76899465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17098942	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4478861	0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs4949719	0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6593538	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv274979	chr1:76899464-76905352	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Liver enzyme levels (aspartate transaminase)	24124411	GWAS catalog
Liver enzyme levels (alanine transaminase)	24124411	GWAS catalog

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76898400-76900000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76898600-76900000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76898600-76900000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:76898600-76900000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:76898800-76900000	Enhancers	Brain Angular Gyrus	brain
6	chr1:76898800-76900000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:76898800-76901600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:76899000-76899600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:76899000-76899600	Weak transcription	Ovary	ovary
10	chr1:76899000-76899800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:76899000-76900000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:76899000-76900400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:76899200-76899800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:76899200-76899800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:76899200-76900000	Enhancers	Fetal Lung	lung
16	chr1:76899400-76900000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:76899400-76900000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:76899400-76900000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:76899400-76900200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:76899400-76900200	Enhancers	Adipose Nuclei	Adipose
21	chr1:76899400-76900200	Enhancers	Fetal Kidney	kidney

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