Variant report

Variant	rs7665192
Chromosome Location	chr4:120247065-120247066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10006877	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10017371	0.80[AMR][1000 genomes]
rs10026436	0.80[AMR][1000 genomes]
rs1022145	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11722872	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11729991	0.80[AMR][1000 genomes]
rs12505469	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13104396	0.80[AMR][1000 genomes]
rs1546502	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1546504	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1546505	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2017057	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28643450	0.81[EUR][1000 genomes]
rs34425882	0.81[EUR][1000 genomes]
rs34685788	0.83[EUR][1000 genomes]
rs34818745	0.83[EUR][1000 genomes]
rs6847248	0.88[EUR][1000 genomes]
rs6848580	0.80[AMR][1000 genomes]
rs6857105	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676045	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7672493	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs878373	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879840	chr4:120227419-120257417	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS 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 lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7665192	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs7665192	RP11-33B1.1	cis	Whole Blood	GTEx
rs7665192	RP11-33B1.1	cis	Thyroid	GTEx
rs7665192	RP11-33B1.1	cis	lung	GTEx
rs7665192	C4orf3	cis	Whole Blood	GTEx
rs7665192	RP11-384K6.6	cis	Whole Blood	GTEx
rs7665192	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs7665192	RP11-33B1.4	cis	Whole Blood	GTEx
rs7665192	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs7665192	RP11-33B1.1	cis	Stomach	GTEx
rs7665192	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs7665192	LOC645513	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120235600-120251000	Weak transcription	Left Ventricle	heart
3	chr4:120244400-120249800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:120245200-120249600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:120245400-120249600	Weak transcription	Fetal Intestine Small	intestine

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