Variant report

Variant	rs10061348
Chromosome Location	chr5:120839263-120839264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1428711	0.88[ASN][1000 genomes]
rs2115329	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2115330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115331	0.82[ASN][1000 genomes]
rs2162912	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2406531	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs981332	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33642	chr5:120380525-120848760	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1023679	chr5:120689805-120890257	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv882803	chr5:120722413-120873947	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882806	chr5:120741900-120917249	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882807	chr5:120758647-120873947	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120836600-120839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:120838400-120839600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:120838600-120839600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:120838600-120839800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:120838600-120839800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:120838800-120839400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:120838800-120839800	Enhancers	Fetal Heart	heart
8	chr5:120839000-120839400	Enhancers	Adipose Nuclei	Adipose
9	chr5:120839000-120839400	Enhancers	Fetal Lung	lung
10	chr5:120839000-120839400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:120839000-120839600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:120839000-120839600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:120839000-120839600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:120839000-120839600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:120839200-120839600	Enhancers	Brain Hippocampus Middle	brain
16	chr5:120839200-120839800	Enhancers	Dnd41	blood
17	chr5:120839200-120840400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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