Variant report

Variant	rs6947566
Chromosome Location	chr7:14755006-14755007
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10228891	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247462	0.82[AFR][1000 genomes]
rs10259838	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10278975	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10499462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10950534	0.86[AMR][1000 genomes]
rs11971649	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12154366	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12533352	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536592	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537147	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539208	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12669997	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699654	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.95[ASN][1000 genomes]
rs12699655	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.93[ASN][1000 genomes]
rs12699658	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13231864	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13237347	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1357856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357861	0.81[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap]
rs1357863	0.81[CEU][hapmap]
rs1357871	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1357872	0.96[CEU][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1404613	0.87[CHD][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs1404615	0.81[CEU][hapmap];0.88[AMR][1000 genomes]
rs1404616	0.81[CEU][hapmap];0.88[GIH][hapmap];0.88[AMR][1000 genomes]
rs1525074	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1525078	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs1525099	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1568846	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1568847	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17606181	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17668635	0.95[ASN][1000 genomes]
rs17668761	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830028	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1997040	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34587189	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35046572	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35731392	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4521664	0.87[CHD][hapmap]
rs4719417	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721360	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62448684	0.86[EUR][1000 genomes]
rs6461120	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs6461121	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6944222	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6954517	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956435	0.82[AMR][1000 genomes]
rs6965205	0.82[ASW][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6965637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966274	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7785767	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885438	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs9639212	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9639213	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9691103	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9784967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887712	chr7:14717872-14829858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6947566	DGKB	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14712800-14775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14753600-14755200	Enhancers	GM12878-XiMat	blood
3	chr7:14754200-14757600	Enhancers	Liver	Liver
4	chr7:14755000-14755200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:14755000-14756000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:14755000-14756000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:14755000-14756600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:14755000-14757000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:14755000-14757800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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