Variant report

Variant	rs11772580
Chromosome Location	chr7:100101648-100101649
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	chr7:100081049..100083488-chr7:100101635..100104304,2	K562	blood:
2	chr7:100101177..100103275-chr7:100111014..100113501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166924	Chromatin interaction
ENSG00000266372	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1073	1.00[ASN][1000 genomes]
rs11559117	1.00[ASN][1000 genomes]
rs11761624	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761725	1.00[ASN][1000 genomes]
rs11761784	1.00[ASN][1000 genomes]
rs11763511	1.00[ASN][1000 genomes]
rs11764818	1.00[ASN][1000 genomes]
rs11766202	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766752	1.00[ASN][1000 genomes]
rs11769700	1.00[ASN][1000 genomes]
rs11773661	1.00[ASN][1000 genomes]
rs1962269	1.00[ASN][1000 genomes]
rs2406253	1.00[ASN][1000 genomes]
rs2406255	1.00[ASN][1000 genomes]
rs28629346	1.00[ASN][1000 genomes]
rs2897358	1.00[ASN][1000 genomes]
rs34989573	1.00[ASN][1000 genomes]
rs4074838	1.00[ASN][1000 genomes]
rs4385401	1.00[ASN][1000 genomes]
rs4463351	1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	1.00[ASN][1000 genomes]
rs4989959	1.00[ASN][1000 genomes]
rs60257855	1.00[ASN][1000 genomes]
rs60478351	1.00[ASN][1000 genomes]
rs60644673	1.00[ASN][1000 genomes]
rs60844404	1.00[ASN][1000 genomes]
rs66648318	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66958101	1.00[ASN][1000 genomes]
rs67040465	0.86[ASN][1000 genomes]
rs67196635	1.00[ASN][1000 genomes]
rs67239991	1.00[ASN][1000 genomes]
rs67483801	1.00[ASN][1000 genomes]
rs67885733	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948699	1.00[ASN][1000 genomes]
rs6953107	1.00[ASN][1000 genomes]
rs6955362	1.00[ASN][1000 genomes]
rs6962151	1.00[ASN][1000 genomes]
rs6972167	0.86[ASN][1000 genomes]
rs6974286	1.00[ASN][1000 genomes]
rs6975514	1.00[ASN][1000 genomes]
rs6975729	1.00[ASN][1000 genomes]
rs6978739	1.00[ASN][1000 genomes]
rs6979335	1.00[ASN][1000 genomes]
rs73405353	1.00[ASN][1000 genomes]
rs7778181	0.85[EUR][1000 genomes]
rs7787620	1.00[ASN][1000 genomes]
rs7787825	1.00[ASN][1000 genomes]
rs7794485	1.00[ASN][1000 genomes]
rs7800667	1.00[ASN][1000 genomes]
rs7809801	1.00[ASN][1000 genomes]
rs7811142	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs11772580	PILRA	cis	Adipose Subcutaneous	GTEx
rs11772580	STAG3L5P	cis	Artery Aorta	GTEx
rs11772580	PILRB	cis	Adipose Subcutaneous	GTEx
rs11772580	PVRIG2P	cis	lung	GTEx
rs11772580	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs11772580	PILRB	cis	Nerve Tibial	GTEx
rs11772580	PILRA	cis	Artery Tibial	GTEx
rs11772580	STAG3L5P	cis	Muscle Skeletal	GTEx
rs11772580	PILRA	cis	Muscle Skeletal	GTEx
rs11772580	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs11772580	PILRA	cis	Esophagus Mucosa	GTEx
rs11772580	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs11772580	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs11772580	PILRB	cis	Esophagus Mucosa	GTEx
rs11772580	LOC389541	Cis_1M	lymphoblastoid	RTeQTL
rs11772580	PILRA	cis	Nerve Tibial	GTEx
rs11772580	PILRB	cis	multi-tissue	Pritchard
rs11772580	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs11772580	PILRB	cis	lung	GTEx
rs11772580	STAG3L5P	cis	lung	GTEx
rs11772580	PILRB	cis	Thyroid	GTEx
rs11772580	PILRA	cis	Thyroid	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100088800-100104000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
3	chr7:100092200-100104200	Weak transcription	Fetal Brain Male	brain
4	chr7:100092600-100104000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100092600-100107000	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:100092800-100103800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:100094000-100107000	Weak transcription	Brain Germinal Matrix	brain
8	chr7:100100000-100102000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:100100000-100102600	Enhancers	Placenta	Placenta
10	chr7:100100400-100101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:100100400-100102000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100100400-100102800	Enhancers	A549	lung
13	chr7:100100600-100101800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:100100600-100101800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:100100600-100101800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:100100600-100101800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:100100800-100102200	Enhancers	HepG2	liver
18	chr7:100101200-100106800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:100101400-100106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:100101600-100103200	Enhancers	Hela-S3	cervix
21	chr7:100101600-100103800	Weak transcription	K562	blood
22	chr7:100101600-100106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:100101600-100106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:100101600-100106600	Weak transcription	NHEK	skin
25	chr7:100101600-100106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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