Variant report

Variant	rs4869412
Chromosome Location	chr5:92455655-92455656
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]
rs10514370	0.81[ASN][1000 genomes]
rs12519773	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13177386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496331	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242239	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4343824	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4358503	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4470752	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489042	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6557063	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66496757	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs67779882	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6873704	0.95[ASN][1000 genomes]
rs6883741	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7446568	0.82[ASN][1000 genomes]
rs7711868	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830399	chr5:92290915-92462490	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92454200-92456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:92454400-92456000	Weak transcription	Fetal Lung	lung
3	chr5:92454400-92456200	Weak transcription	Fetal Heart	heart
4	chr5:92454400-92456400	Weak transcription	HSMMtube	muscle
5	chr5:92454400-92462000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:92454400-92463000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:92454800-92455800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:92455200-92456800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:92455400-92456400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:92455400-92457000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:92455600-92456200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:92455600-92456800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:92455600-92456800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:92455600-92456800	Enhancers	HMEC	breast
15	chr5:92455600-92457000	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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