Variant report

Variant	rs7302711
Chromosome Location	chr12:11344630-11344631
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	chr12:11329971..11333286-chr12:11342480..11345891,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256629	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1047709	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1047712	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1349553	0.84[ASN][1000 genomes]
rs1451765	0.82[ASN][1000 genomes]
rs1451766	1.00[ASN][1000 genomes]
rs1451772	0.82[ASN][1000 genomes]
rs1451774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551191	0.81[ASN][1000 genomes]
rs1551193	0.84[ASN][1000 genomes]
rs1650020	0.82[ASN][1000 genomes]
rs1650029	0.81[ASN][1000 genomes]
rs1650030	0.82[ASN][1000 genomes]
rs1650031	0.82[ASN][1000 genomes]
rs1650053	0.81[ASN][1000 genomes]
rs1669410	0.82[ASN][1000 genomes]
rs1669412	0.82[ASN][1000 genomes]
rs1669414	0.82[ASN][1000 genomes]
rs1669418	0.82[ASN][1000 genomes]
rs1669422	0.82[ASN][1000 genomes]
rs17817150	1.00[ASN][1000 genomes]
rs1817104	0.82[ASN][1000 genomes]
rs1863848	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290318	0.84[ASN][1000 genomes]
rs2290319	0.84[ASN][1000 genomes]
rs2416548	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2416549	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708331	0.82[ASN][1000 genomes]
rs319267	0.82[ASN][1000 genomes]
rs319268	0.82[ASN][1000 genomes]
rs319271	0.82[ASN][1000 genomes]
rs319272	0.82[ASN][1000 genomes]
rs319273	0.82[ASN][1000 genomes]
rs319274	0.82[ASN][1000 genomes]
rs34134804	1.00[ASN][1000 genomes]
rs34272839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34373518	0.83[ASN][1000 genomes]
rs34413287	0.92[ASN][1000 genomes]
rs34648613	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34666803	0.84[ASN][1000 genomes]
rs34708147	0.81[ASN][1000 genomes]
rs34949195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35119575	0.81[ASN][1000 genomes]
rs35183723	0.81[ASN][1000 genomes]
rs35499317	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35650731	1.00[ASN][1000 genomes]
rs35746980	0.84[ASN][1000 genomes]
rs35969491	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583064	0.96[ASN][1000 genomes]
rs4763638	0.81[ASN][1000 genomes]
rs5020531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488346	0.83[ASN][1000 genomes]
rs6488357	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67471783	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67955183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453440	1.00[ASN][1000 genomes]
rs7316032	0.83[ASN][1000 genomes]
rs7350611	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488095	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7488102	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980677	0.80[ASN][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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs7302711	RP11-434C1.1	cis	Nerve Tibial	GTEx
rs7302711	TAS2R14	cis	Esophagus Mucosa	GTEx
rs7302711	TAS2R14	cis	Muscle Skeletal	GTEx
rs7302711	RP11-434C1.1	cis	Esophagus Mucosa	GTEx
rs7302711	PRR4	cis	Artery Tibial	GTEx
rs7302711	RP11-434C1.1	cis	Artery Tibial	GTEx
rs7302711	TAS2R14	cis	Nerve Tibial	GTEx
rs7302711	RP11-434C1.1	cis	Thyroid	GTEx
rs7302711	RP11-434C1.1	cis	Muscle Skeletal	GTEx
rs7302711	RP11-785H5.1	cis	Muscle Skeletal	GTEx
rs7302711	TAS2R14	cis	Adipose Subcutaneous	GTEx
rs7302711	RP11-434C1.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7302711	RP11-434C1.1	cis	Heart Left Ventricle	GTEx
rs7302711	TAS2R20	cis	Adipose Subcutaneous	GTEx
rs7302711	TAS2R14	cis	lung	GTEx
rs7302711	PRR4	cis	Heart Left Ventricle	GTEx
rs7302711	PRR4	cis	Thyroid	GTEx
rs7302711	PRR4	cis	Whole Blood	GTEx
rs7302711	TAS2R14	cis	Skin Sun Exposed Lower leg	GTEx
rs7302711	TAS2R14	cis	Artery Tibial	GTEx
rs7302711	TAS2R15	cis	Thyroid	GTEx
rs7302711	TAS2R20	cis	Muscle Skeletal	GTEx
rs7302711	TAS2R20	cis	Thyroid	GTEx
rs7302711	PRR4	cis	multi-tissue	Pritchard
rs7302711	RP11-434C1.1	cis	Adipose Subcutaneous	GTEx
rs7302711	PRR4	cis	Nerve Tibial	GTEx
rs7302711	PRR4	cis	Adipose Subcutaneous	GTEx
rs7302711	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs7302711	TAS2R20	cis	Esophagus Muscularis	GTEx
rs7302711	RP11-434C1.1	cis	Esophagus Muscularis	GTEx
rs7302711	PRR4	cis	Esophagus Muscularis	GTEx
rs7302711	PRR4	cis	Muscle Skeletal	GTEx
rs7302711	RP11-434C1.1	cis	lung	GTEx
rs7302711	TAS2R20	cis	Nerve Tibial	GTEx
rs7302711	TAS2R20	cis	lung	GTEx
rs7302711	TAS2R20	cis	Artery Tibial	GTEx
rs7302711	RP11-434C1.1	cis	Stomach	GTEx
rs7302711	PRR4	cis	lung	GTEx
rs7302711	TAS2R14	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood

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