Variant report

Variant	rs2006209
Chromosome Location	chr19:42096228-42096229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10414640	0.96[ASN][1000 genomes]
rs16975382	0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2006209	CEACAM21	cis	multi-tissue	Pritchard
rs2006209	R29124_1	cis	multi-tissue	Pritchard

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42089600-42101400	Weak transcription	GM12878-XiMat	blood
2	chr19:42091400-42098400	Weak transcription	Gastric	stomach
3	chr19:42092000-42101400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:42092600-42096800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:42092600-42098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:42093400-42097000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:42093400-42103800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:42093600-42097000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:42093600-42103800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:42093800-42097600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:42093800-42101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:42094000-42101200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:42094000-42103800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:42094200-42096800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr19:42094200-42101600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:42095400-42096600	Weak transcription	Primary B cells from cord blood	blood
17	chr19:42095600-42096600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:42095800-42102600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:42096000-42097400	Weak transcription	Primary T cells from cord blood	blood
20	chr19:42096000-42098400	Weak transcription	Spleen	Spleen

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