Variant report

Variant	rs367971
Chromosome Location	chr5:93432805-93432806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1371285	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2167763	0.93[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7737964	0.86[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs367971	PCSK1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93416600-93445800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:93417600-93439000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:93419200-93445200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:93423400-93442800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:93429400-93433600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:93430000-93441000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:93430800-93433600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:93431000-93440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:93431000-93446600	Weak transcription	Gastric	stomach
10	chr5:93432200-93433000	Strong transcription	Primary T cells from cord blood	blood
11	chr5:93432400-93433000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:93432400-93434000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:93432400-93435600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:93432600-93433000	Enhancers	Left Ventricle	heart
15	chr5:93432600-93433800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:93432600-93433800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr5:93432800-93433200	Enhancers	Ovary	ovary
18	chr5:93432800-93433600	Weak transcription	Pancreas	Pancrea
19	chr5:93432800-93433800	ZNF genes & repeats	Fetal Thymus	thymus

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

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