Variant report

Variant	rs873910
Chromosome Location	chr19:42084795-42084796
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	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
2	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10153482	0.81[ASN][1000 genomes]
rs10405039	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10406221	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420992	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10421574	0.82[ASN][1000 genomes]
rs11083627	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11083628	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11083629	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11673075	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12150975	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12462194	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12983999	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1860255	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2005606	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191019	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302188	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2317314	0.82[ASN][1000 genomes]
rs34054275	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803479	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803481	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs714106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257565	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740591	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv960930	chr19:42080172-42093112	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv978752	chr19:42082354-42093112	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs873910	CEACAMP3	cis	Whole Blood	GTEx
rs873910	CEACAM21	cis	Whole Blood	GTEx
rs873910	CEACAMP3	cis	lung	GTEx
rs873910	CEACAM21	cis	Thyroid	GTEx
rs873910	CEACAM21	cis	lung	GTEx
rs873910	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42082200-42085200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:42082800-42086600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr19:42082800-42086600	Weak transcription	Lung	lung
4	chr19:42083200-42085000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:42083200-42085000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:42083200-42085400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42083200-42085800	Weak transcription	GM12878-XiMat	blood
8	chr19:42083200-42086600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:42083200-42086600	Weak transcription	Thymus	Thymus
10	chr19:42083600-42084800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:42083600-42085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:42083600-42086600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:42083600-42087000	Strong transcription	Primary T cells from cord blood	blood
14	chr19:42083600-42087000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:42083600-42094000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:42083800-42084800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:42083800-42086800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:42083800-42088600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:42083800-42088600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:42083800-42093600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:42084000-42084800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:42084000-42086600	Weak transcription	Placenta	Placenta
23	chr19:42084000-42092000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:42084000-42094200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:42084200-42087000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:42084200-42087800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:42084200-42089400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:42084400-42085600	Weak transcription	Spleen	Spleen
29	chr19:42084400-42085800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr19:42084400-42087600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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