Variant report

Variant	rs34466769
Chromosome Location	chr7:65453292-65453293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65444977..65446741-chr7:65453126..65455205,2	K562	blood:
2	chr7:65446738..65449065-chr7:65452732..65454803,2	K562	blood:

Variant related genes	Relation type
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs1039664	0.84[ASW][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11538349	0.94[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs1167613	0.90[AFR][1000 genomes]
rs1177514	0.93[AFR][1000 genomes]
rs12698509	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs13236109	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs160643	0.84[GIH][hapmap]
rs160646	0.84[GIH][hapmap]
rs160652	0.84[GIH][hapmap]
rs1701745	0.95[AFR][1000 genomes]
rs1701750	0.90[AFR][1000 genomes]
rs1701758	0.90[AFR][1000 genomes]
rs1701759	0.88[AFR][1000 genomes]
rs1715235	0.93[AFR][1000 genomes]
rs1723267	0.86[AFR][1000 genomes]
rs1723272	0.86[AFR][1000 genomes]
rs1964692	0.93[AFR][1000 genomes]
rs2243480	0.84[GIH][hapmap]
rs2456483	0.95[AFR][1000 genomes]
rs2462569	0.86[AFR][1000 genomes]
rs2949697	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs313799	0.85[AFR][1000 genomes]
rs313800	0.83[AFR][1000 genomes]
rs313807	0.85[AFR][1000 genomes]
rs313808	0.81[AFR][1000 genomes]
rs316327	0.81[GIH][hapmap]
rs316329	0.84[GIH][hapmap]
rs316331	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs34136756	0.94[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs34193460	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs34529418	0.94[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs34637256	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs34933526	0.94[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs35310401	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs35391607	0.94[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs35480979	0.94[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs35679560	0.83[AFR][1000 genomes]
rs35735127	0.87[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs3813708	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs383402	0.84[GIH][hapmap]
rs392355	0.88[AFR][1000 genomes]
rs419603	0.84[GIH][hapmap]
rs448377	0.88[AFR][1000 genomes]
rs451396	0.86[AFR][1000 genomes]
rs56171161	0.83[AFR][1000 genomes]
rs58207111	0.90[AFR][1000 genomes]
rs59966766	0.93[AFR][1000 genomes]
rs6949812	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs6970243	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs6974723	0.84[GIH][hapmap]
rs709607	0.84[ASW][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7794661	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs7795242	0.94[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs781142	0.93[GIH][hapmap];0.84[MEX][hapmap]
rs781149	0.90[AFR][1000 genomes]
rs781156	0.93[AFR][1000 genomes]
rs781157	0.88[AFR][1000 genomes]
rs937108	0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv967489	chr7:65445874-65469129	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34466769	ZNF273	cis	parietal	SCAN
rs34466769	GUSB	cis	Whole Blood	GTEx
rs34466769	CRCP	cis	cerebellum	SCAN
rs34466769	VKORC1L1	cis	Whole Blood	GTEx
rs34466769	VKORC1L1	cis	parietal	SCAN
rs34466769	RP4-756H11.3	cis	lung	GTEx
rs34466769	ASL	cis	multi-tissue	Pritchard
rs34466769	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65449200-65480400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65451800-65455000	Enhancers	HepG2	liver
3	chr7:65452800-65453600	Enhancers	K562	blood

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