Variant report

Variant	rs6968537
Chromosome Location	chr7:16168708-16168709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10227232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252227	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10277151	0.81[EUR][1000 genomes]
rs11760631	0.80[EUR][1000 genomes]
rs11760717	0.82[EUR][1000 genomes]
rs12537888	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405591	0.81[EUR][1000 genomes]
rs1527205	0.82[EUR][1000 genomes]
rs1527215	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1852476	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1881242	0.83[EUR][1000 genomes]
rs1990364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721475	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66933521	0.81[EUR][1000 genomes]
rs6943936	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1846736	chr7:16168502-16173482	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844385	chr7:16168502-16211553	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv511373	chr7:16168708-16182966	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6968537	DGKB	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16158200-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:16163400-16169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16165000-16169800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16167800-16170400	Weak transcription	Left Ventricle	heart
5	chr7:16168200-16169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:16168200-16170800	Enhancers	HSMM	muscle
7	chr7:16168400-16168800	Enhancers	Osteobl	bone
8	chr7:16168400-16169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:16168400-16170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:16168600-16168800	Enhancers	HSMMtube	muscle
11	chr7:16168600-16168800	Enhancers	NH-A	brain
12	chr7:16168600-16168800	Enhancers	NHDF-Ad	bronchial
13	chr7:16168600-16169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:16168600-16169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:16168600-16169600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:16168600-16170000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:16168600-16170600	Enhancers	HMEC	breast
18	chr7:16168600-16171000	Enhancers	HUVEC	blood vessel

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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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