Variant report

Variant	rs2714904
Chromosome Location	chr4:148262354-148262355
allele	A/G
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:18)

rs_ID	r²[population]
rs1005771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1346599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1366692	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1366694	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1429101	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1429127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1429138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1981987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115561	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835078	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6816629	1.00[EUR][1000 genomes]
rs6817192	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6823869	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7694172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934142	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv4540	chr4:148230593-148275778	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148246200-148263400	Weak transcription	Right Atrium	heart
2	chr4:148260200-148262600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:148261200-148262400	Enhancers	HSMM	muscle
4	chr4:148261200-148262400	Enhancers	HUVEC	blood vessel
5	chr4:148261200-148262600	Enhancers	HMEC	breast
6	chr4:148261400-148262600	Enhancers	Fetal Stomach	stomach
7	chr4:148261600-148262400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:148261600-148262400	Enhancers	Brain Hippocampus Middle	brain
9	chr4:148261800-148262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:148261800-148262400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:148261800-148262400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:148261800-148262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:148261800-148262400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:148262000-148262800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:148262000-148262800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:148262000-148272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:148262200-148262800	Enhancers	NHDF-Ad	bronchial

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

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