Variant report

Variant	rs11623400
Chromosome Location	chr14:25044212-25044213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11624387	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11627296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11629129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11844124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11851426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12147128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12147169	0.86[ASN][1000 genomes]
rs17105315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs20545	1.00[CHB][hapmap]
rs2332402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34037718	0.83[ASN][1000 genomes]
rs34530338	0.86[ASN][1000 genomes]
rs3759639	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56871173	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74039131	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74039134	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74039181	0.86[ASN][1000 genomes]
rs8021523	0.83[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11623400	PCK2	cis	parietal	SCAN
rs11623400	OR4N5	cis	parietal	SCAN
rs11623400	LTB4R2	cis	parietal	SCAN
rs11623400	DHRS1	cis	parietal	SCAN
rs11623400	CCNB1IP1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25043200-25047200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:25043200-25047200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:25043600-25045600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:25044000-25047400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:25044200-25044400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:25044200-25044400	Enhancers	Fetal Thymus	thymus
7	chr14:25044200-25045400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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