Variant report

Variant	rs57463740
Chromosome Location	chr4:96329948-96329949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17373352	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17380297	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17439192	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17439744	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6821215	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821365	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826809	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827106	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96285200-96334600	Weak transcription	Aorta	Aorta
2	chr4:96304200-96333000	Weak transcription	Fetal Lung	lung
3	chr4:96314600-96331800	Weak transcription	Fetal Stomach	stomach
4	chr4:96316200-96332000	Weak transcription	Fetal Kidney	kidney
5	chr4:96317400-96333000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:96320000-96330000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:96320400-96330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:96324200-96330400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:96326600-96330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:96327200-96331400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:96327800-96330200	Weak transcription	Brain Anterior Caudate	brain
12	chr4:96329000-96330000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:96329000-96330000	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:96329600-96331200	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:96329600-96333200	Enhancers	HUVEC	blood vessel
16	chr4:96329800-96330800	Enhancers	Brain Substantia Nigra	brain
17	chr4:96329800-96330800	Enhancers	NH-A	brain
18	chr4:96329800-96331000	Enhancers	A549	lung

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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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