Variant report

Variant	rs4469386
Chromosome Location	chr7:100104368-100104369
allele	C/T
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	RCOR1	chr7:100104220-100104471	K562	blood:	n/a	n/a
2	ARID3A	chr7:100104043-100104437	K562	blood:	n/a	n/a
3	MAFF	chr7:100104221-100104459	K562	blood:	n/a	n/a
4	ZNF384	chr7:100104265-100104438	K562	blood:	n/a	n/a
5	RFX5	chr7:100104215-100104463	HepG2	liver:	n/a	chr7:100104351-100104366 chr7:100104319-100104334
6	POU2F2	chr7:100104074-100104378	GM12878	blood:	n/a	chr7:100104251-100104264
7	IRF1	chr7:100104215-100104476	K562	blood:	n/a	n/a
8	MAX	chr7:100104198-100104519	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr7:100104250-100104450	K562	blood:	n/a	n/a
10	TBL1XR1	chr7:100104209-100104485	K562	blood:	n/a	n/a
11	BACH1	chr7:100104326-100104464	K562	blood:	n/a	n/a
12	IRF1	chr7:100104200-100104422	K562	blood:	n/a	n/a
13	MXI1	chr7:100104223-100104419	HepG2	liver:	n/a	n/a
14	MXI1	chr7:100104157-100104530	K562	blood:	n/a	n/a
15	POU2F2	chr7:100104140-100104419	GM12891	blood:	n/a	chr7:100104251-100104264
16	ZC3H11A	chr7:100104342-100104475	K562	blood:	n/a	n/a
17	RCOR1	chr7:100104164-100104535	K562	blood:	n/a	n/a
18	EP300	chr7:100104304-100104441	K562	blood:	n/a	n/a
19	MXI1	chr7:100104204-100104492	H1-hESC	embryonic stem cell:	n/a	n/a
20	RFX5	chr7:100104332-100104490	K562	blood:	n/a	chr7:100104351-100104366
21	TBL1XR1	chr7:100104309-100104407	K562	blood:	n/a	n/a
22	CEBPB	chr7:100104267-100104422	K562	blood:	n/a	n/a
23	RFX5	chr7:100104339-100104404	Hela-S3	cervix:	n/a	chr7:100104351-100104366

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100102835..100104621-chr7:100106909..100109303,2	K562	blood:
2	chr7:100103077..100105478-chr7:100485586..100488236,2	K562	blood:

Variant related genes	Relation type
ENSG00000225807	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000225807	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

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	0.97[AFR][1000 genomes];0.89[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	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766752	1.00[ASN][1000 genomes]
rs11769700	1.00[ASN][1000 genomes]
rs11772580	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]
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	0.96[AFR][1000 genomes];0.89[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	0.96[AFR][1000 genomes];0.89[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	0.94[AFR][1000 genomes];0.87[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4469386	PILRB	cis	lung	GTEx
rs4469386	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs4469386	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs4469386	PILRB	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100092600-100107000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:100094000-100107000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:100101200-100106800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:100101400-100106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:100101600-100106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:100101600-100106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:100101600-100106600	Weak transcription	NHEK	skin
9	chr7:100101600-100106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:100101800-100106600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:100101800-100106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100101800-100106800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:100102000-100106600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:100102200-100106800	Weak transcription	HepG2	liver
15	chr7:100103800-100104800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:100103800-100105400	Enhancers	K562	blood
17	chr7:100104000-100104400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:100104000-100104600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100104200-100106800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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