Variant report

Variant	rs17144678
Chromosome Location	chr5:118157852-118157853
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10434765	1.00[CHB][hapmap]
rs12186800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1355377	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1533107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17372823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4895184	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs4895356	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs607412	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs612000	0.82[ASN][1000 genomes]
rs612719	0.82[ASN][1000 genomes]
rs6863818	1.00[YRI][hapmap]
rs7700373	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7712081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
3	chr5:118157400-118158600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:118157800-118158000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:118157800-118158400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:118157800-118158400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:118157800-118158400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:118157800-118158600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:118157800-118158800	Enhancers	HUES64 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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