Variant report

Variant	rs11760727
Chromosome Location	chr7:64299988-64299989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:64295999-64300505	K562	blood:	n/a	n/a
2	HEY1	chr7:64299336-64300444	K562	blood:	n/a	n/a
3	POLR2A	chr7:64298468-64300423	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234722	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10225171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240146	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10251806	0.82[EUR][1000 genomes]
rs10279535	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949938	0.82[ASN][1000 genomes]
rs10949947	0.80[EUR][1000 genomes]
rs10949948	0.80[EUR][1000 genomes]
rs11760270	0.82[ASN][1000 genomes]
rs11983033	0.82[ASN][1000 genomes]
rs13228575	0.80[EUR][1000 genomes]
rs1464927	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464928	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815166	0.82[EUR][1000 genomes]
rs1815167	0.82[EUR][1000 genomes]
rs1880656	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015939	0.82[EUR][1000 genomes]
rs2418465	0.82[EUR][1000 genomes]
rs3763506	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273744	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4392773	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4518551	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717217	0.80[EUR][1000 genomes]
rs4717220	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718122	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718125	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718131	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683815	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55780785	0.86[ASN][1000 genomes]
rs56004721	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075681	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391048	0.85[ASN][1000 genomes]
rs56785930	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57570718	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59666562	0.84[ASN][1000 genomes]
rs60113999	0.83[AMR][1000 genomes]
rs60779365	0.86[ASN][1000 genomes]
rs61703184	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6460195	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686910	0.86[ASN][1000 genomes]
rs6956610	0.82[ASN][1000 genomes]
rs6961445	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976546	0.86[ASN][1000 genomes]
rs73126358	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73126387	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130313	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73130314	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73132347	0.85[ASN][1000 genomes]
rs73132368	0.86[ASN][1000 genomes]
rs73132377	0.86[ASN][1000 genomes]
rs73142715	0.82[ASN][1000 genomes]
rs73142749	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783765	0.82[EUR][1000 genomes]
rs7784902	0.85[ASN][1000 genomes]
rs7787287	0.80[EUR][1000 genomes]
rs7788090	0.86[ASN][1000 genomes]
rs7789149	0.82[EUR][1000 genomes]
rs7792444	0.80[EUR][1000 genomes]
rs7793057	0.80[EUR][1000 genomes]
rs7802289	0.82[EUR][1000 genomes]
rs7808498	0.85[ASN][1000 genomes]
rs7809177	0.80[EUR][1000 genomes]
rs7810067	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv15396	chr7:64295355-64301341	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv607313	chr7:64298329-64300612	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv607314	chr7:64298527-64300612	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs11760727	SEPHS1P1	cis	Artery Tibial	GTEx
rs11760727	RP11-460N20.5	cis	Thyroid	GTEx
rs11760727	RP11-797H7.3	cis	Stomach	GTEx
rs11760727	RP11-797H7.3	cis	Esophagus Muscularis	GTEx
rs11760727	ZNF273	cis	lung	GTEx
rs11760727	RP11-797H7.3	cis	Artery Aorta	GTEx
rs11760727	RP11-460N20.5	cis	Adipose Subcutaneous	GTEx
rs11760727	RP11-797H7.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11760727	SEPHS1P1	cis	Thyroid	GTEx
rs11760727	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs11760727	RP11-797H7.3	cis	lung	GTEx
rs11760727	RP11-797H7.5	cis	Nerve Tibial	GTEx
rs11760727	RP11-797H7.3	cis	Thyroid	GTEx
rs11760727	RP11-797H7.5	cis	Thyroid	GTEx
rs11760727	RP11-797H7.3	cis	Heart Left Ventricle	GTEx
rs11760727	SEPHS1P1	cis	Nerve Tibial	GTEx
rs11760727	SEPHS1P1	cis	Stomach	GTEx
rs11760727	RP11-797H7.3	cis	Whole Blood	GTEx
rs11760727	SEPHS1P1	cis	Skin Sun Exposed Lower leg	GTEx
rs11760727	RP11-797H7.3	cis	Esophagus Mucosa	GTEx
rs11760727	SEPHS1P1	cis	Esophagus Muscularis	GTEx
rs11760727	RP11-797H7.5	cis	lung	GTEx
rs11760727	CCT6P3	cis	Esophagus Mucosa	GTEx
rs11760727	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs11760727	RP11-797H7.3	cis	Artery Tibial	GTEx
rs11760727	INTS4L1	cis	Adipose Subcutaneous	GTEx
rs11760727	RP11-797H7.3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:64299600-64300200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:64299800-64300000	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:64299800-64300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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