Variant report

Variant	rs7257565
Chromosome Location	chr19:42059674-42059675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10153482	0.94[ASN][1000 genomes]
rs10405039	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10406221	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420992	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421574	0.95[ASN][1000 genomes]
rs10423808	0.83[ASN][1000 genomes]
rs10424376	0.83[ASN][1000 genomes]
rs11083626	0.82[ASN][1000 genomes]
rs11083627	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083628	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11083629	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11673075	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12150975	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462194	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12983999	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860255	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005606	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2191019	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302188	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317314	0.95[ASN][1000 genomes]
rs34054275	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802120	0.83[ASN][1000 genomes]
rs4802122	0.83[ASN][1000 genomes]
rs4803479	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803481	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714106	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7255742	0.82[ASN][1000 genomes]
rs7257282	0.82[ASN][1000 genomes]
rs873910	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv579603	chr19:42058025-42062131	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7257565	CEACAMP3	cis	lung	GTEx
rs7257565	CEACAM21	cis	lung	GTEx
rs7257565	CEACAM21	cis	Adipose Subcutaneous	GTEx
rs7257565	CEACAM21	cis	Whole Blood	GTEx
rs7257565	CEACAMP3	cis	Whole Blood	GTEx
rs7257565	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL
rs7257565	CEACAM21	cis	Thyroid	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42055600-42059800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:42055800-42060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr19:42056200-42060400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:42056600-42060200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:42057000-42061000	Weak transcription	HUVEC	blood vessel
6	chr19:42057600-42060000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:42057800-42060800	Flanking Active TSS	GM12878-XiMat	blood
8	chr19:42058000-42061200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
10	chr19:42058200-42060000	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:42058800-42059800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:42058800-42060000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:42059000-42061800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:42059200-42059800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:42059200-42060400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
16	chr19:42059200-42061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:42059200-42062000	Weak transcription	Spleen	Spleen
18	chr19:42059200-42063200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr19:42059400-42059800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:42059400-42059800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:42059400-42060200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr19:42059400-42060600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr19:42059400-42060600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr19:42059400-42061200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr19:42059600-42059800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr19:42059600-42059800	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr19:42059600-42059800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:42059600-42060000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr19:42059600-42060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:42059600-42060600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:42059600-42060600	Enhancers	Thymus	Thymus
32	chr19:42059600-42060800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:42059600-42061800	Weak transcription	Fetal Thymus	thymus

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