Variant report

Variant	rs4803476
Chromosome Location	chr19:42027514-42027515
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10406371	0.91[ASN][1000 genomes]
rs10406545	0.92[ASN][1000 genomes]
rs10406988	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10407939	0.81[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs10410081	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10423808	0.83[EUR][1000 genomes]
rs10424376	0.85[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs11083626	0.83[EUR][1000 genomes]
rs11668699	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11669873	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462897	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12609438	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12973063	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2191139	0.87[JPT][hapmap]
rs2286754	0.84[EUR][1000 genomes]
rs2317312	0.92[ASN][1000 genomes]
rs3826716	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802119	0.81[JPT][hapmap]
rs4802120	0.83[EUR][1000 genomes]
rs4802122	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs4803475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249258	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7252454	0.85[ASN][1000 genomes]
rs7252624	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255742	0.86[JPT][hapmap]
rs8112363	0.83[JPT][hapmap]
rs8113621	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579601	chr19:42006714-42031592	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
8	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4803476	CEACAM21	cis	multi-tissue	Pritchard
rs4803476	R29124_1	cis	multi-tissue	Pritchard
rs4803476	CEACAM21	cis	Whole Blood	GTEx
rs4803476	CEACAM21	cis	Lymphoblastoid	GTEx
rs4803476	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42023600-42027600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:42023800-42027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42026400-42027600	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:42026600-42027600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:42027000-42027600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:42027000-42027600	Enhancers	GM12878-XiMat	blood
7	chr19:42027200-42029400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:42027400-42027600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr19:42027400-42027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:42027400-42027600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:42027400-42027600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:42027400-42027600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:42027400-42027600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr19:42027400-42028400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:42027400-42029200	Flanking Active TSS	Primary B cells from cord blood	blood

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