Variant report

Variant	rs4624634
Chromosome Location	chr4:175342189-175342190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11726315	0.82[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs11936682	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922385	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306935	0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs4499680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554044	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593102	1.00[ASN][1000 genomes]
rs6553793	1.00[ASN][1000 genomes]
rs66773185	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67034472	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821522	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704105	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704109	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673685	1.00[CHD][hapmap]
rs7677995	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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4624634	HPGD	cis	multi-tissue	Pritchard
rs4624634	KIAA1712	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175340200-175344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:175340400-175342200	Enhancers	Fetal Thymus	thymus
3	chr4:175340600-175343800	Weak transcription	Hela-S3	cervix
4	chr4:175340600-175345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:175340600-175345800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:175340800-175342800	Enhancers	Primary B cells from cord blood	blood
7	chr4:175340800-175344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:175340800-175344600	Weak transcription	Placenta	Placenta
9	chr4:175341200-175342200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:175341400-175342200	Flanking Active TSS	K562	blood
11	chr4:175341600-175342200	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:175341800-175344200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:175341800-175344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:175342000-175342200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:175342000-175345400	Enhancers	Primary T cells from cord blood	blood

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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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