Variant report

Variant	rs401176
Chromosome Location	chr7:65489642-65489643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65480450..65482731-chr7:65488116..65489890,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1084094	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10950015	0.80[EUR][1000 genomes]
rs10950021	0.83[EUR][1000 genomes]
rs10950022	0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs1167398	0.92[EUR][1000 genomes]
rs11767030	0.84[EUR][1000 genomes]
rs11773552	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532875	0.81[EUR][1000 genomes]
rs12532877	0.81[EUR][1000 genomes]
rs12534626	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12535204	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12538430	1.00[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs12540589	1.00[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs12671816	0.84[EUR][1000 genomes]
rs2264667	0.88[EUR][1000 genomes]
rs2420048	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs313811	0.92[EUR][1000 genomes]
rs365896	0.89[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs382062	0.88[EUR][1000 genomes]
rs419184	0.81[AMR][1000 genomes]
rs4535605	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs453835	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4717280	0.91[EUR][1000 genomes]
rs4718287	0.96[CEU][hapmap]
rs4718296	1.00[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4718298	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59187325	0.94[EUR][1000 genomes]
rs60711791	0.92[EUR][1000 genomes]
rs6460266	0.90[EUR][1000 genomes]
rs6950688	0.81[EUR][1000 genomes]
rs6950821	0.80[EUR][1000 genomes]
rs6958860	0.80[EUR][1000 genomes]
rs6959267	1.00[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs6971490	0.81[EUR][1000 genomes]
rs6971690	0.84[EUR][1000 genomes]
rs73142138	0.82[EUR][1000 genomes]
rs73142150	0.84[EUR][1000 genomes]
rs73142153	0.84[EUR][1000 genomes]
rs73142155	0.85[EUR][1000 genomes]
rs73148071	0.86[EUR][1000 genomes]
rs7778644	0.96[CEU][hapmap]
rs7779679	0.90[EUR][1000 genomes]
rs7786356	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7800210	0.90[EUR][1000 genomes]
rs7803283	0.87[EUR][1000 genomes]
rs7807457	0.81[AMR][1000 genomes];0.92[EUR][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	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	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3370332	chr7:65489217-65491915	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs401176	GUSB	cis	cerebellum	SCAN
rs401176	ZNF273	cis	cerebellum	SCAN
rs401176	ERV3	cis	parietal	SCAN
rs401176	GUSB	cis	parietal	SCAN
rs401176	RP4-756H11.3	cis	Thyroid	GTEx
rs401176	CRCP	cis	cerebellum	SCAN
rs401176	LOC168474	cis	cerebellum	SCAN
rs401176	RABGEF1	cis	cerebellum	SCAN
rs401176	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs401176	RP13-254B10.1	cis	Esophagus Mucosa	GTEx
rs401176	ZNF273	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65489000-65497400	Weak transcription	Liver	Liver

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