Variant report

Variant	rs4845391
Chromosome Location	chr1:154739104-154739105
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:13)

rs_ID	r²[population]
rs11264257	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11584403	0.89[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs11589471	0.82[ASN][1000 genomes]
rs11808053	0.81[JPT][hapmap]
rs12047201	0.81[ASN][1000 genomes]
rs12134335	0.95[AFR][1000 genomes]
rs12404994	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56995760	0.82[ASN][1000 genomes]
rs60161870	0.82[ASN][1000 genomes]
rs6426929	0.81[JPT][hapmap]
rs6666341	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7532286	0.81[JPT][hapmap]
rs7547552	0.92[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4845391	RPRD2	cis	parietal	SCAN
rs4845391	DCST1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154740000	Weak transcription	Right Atrium	heart
2	chr1:154733400-154743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:154733400-154744200	Weak transcription	Spleen	Spleen
4	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:154733600-154739600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:154733600-154739800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:154733800-154740000	Weak transcription	GM12878-XiMat	blood
8	chr1:154734000-154739400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:154738400-154742000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:154739000-154741000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:154739000-154741400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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