Variant report

Variant	rs4388678
Chromosome Location	chr1:215947423-215947424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10864197	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11120621	0.89[EUR][1000 genomes]
rs11120624	0.91[EUR][1000 genomes]
rs12141905	0.89[EUR][1000 genomes]
rs12146110	0.89[EUR][1000 genomes]
rs17025349	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1832951	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255781	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2488418	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2797227	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2797228	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2820729	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655429	0.91[EUR][1000 genomes]
rs6664811	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699592	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215928200-215948800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:215941200-215949800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:215942000-215948200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:215942400-215948800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:215943000-215948400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:215943200-215948600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:215945800-215950200	Weak transcription	HMEC	breast
8	chr1:215945800-215950600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:215946000-215949000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:215946000-215949400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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