Variant report

Variant	rs11083629
Chromosome Location	chr19:42094734-42094735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10405039	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10406221	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420992	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10424376	0.86[JPT][hapmap]
rs11083627	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11083628	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673075	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12150975	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12462194	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12983999	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1860255	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005606	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191019	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2317314	0.82[CHB][hapmap]
rs34054275	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3745936	0.84[CEU][hapmap];0.96[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803479	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803481	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs714106	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255742	0.81[JPT][hapmap]
rs7257565	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7257657	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs740591	0.83[JPT][hapmap]
rs873910	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11083629	CEACAM21	cis	multi-tissue	Pritchard
rs11083629	CEACAM21	cis	Lymphoblastoid	GTEx
rs11083629	CEACAM21	cis	Whole Blood	GTEx
rs11083629	CEACAM21	cis	lung	GTEx
rs11083629	CEACAM21	cis	Thyroid	GTEx
rs11083629	CEACAMP3	cis	Whole Blood	GTEx
rs11083629	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL
rs11083629	CEACAMP3	cis	lung	GTEx
rs11083629	R29124_1	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42087200-42095000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:42089200-42095600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42089600-42095400	Strong transcription	Primary B cells from cord blood	blood
4	chr19:42089600-42101400	Weak transcription	GM12878-XiMat	blood
5	chr19:42090200-42095400	Strong transcription	Spleen	Spleen
6	chr19:42091400-42098400	Weak transcription	Gastric	stomach
7	chr19:42092000-42101400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:42092200-42096000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:42092600-42095000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:42092600-42096800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42092600-42098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:42093000-42095600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr19:42093400-42097000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr19:42093400-42103800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:42093600-42097000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:42093600-42103800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:42093800-42095400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:42093800-42097600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:42093800-42101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:42094000-42101200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr19:42094000-42103800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:42094200-42096800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:42094200-42101600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:42094400-42094800	Weak transcription	Primary T cells from cord blood	blood

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