Variant report

Variant	rs7255742
Chromosome Location	chr19:42049821-42049822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42048251-42050564	A549	lung:	n/a	chr19:42048531-42048547 chr19:42048532-42048553 chr19:42048530-42048548

Variant related genes	Relation type
ENSG00000268027	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10406221	0.86[JPT][hapmap]
rs10406371	0.81[ASN][1000 genomes]
rs10406545	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10420992	0.82[ASN][1000 genomes]
rs10423808	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10424376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11083626	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11083627	0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11668699	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12150975	0.95[JPT][hapmap]
rs12462897	0.81[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12609438	0.87[ASN][1000 genomes]
rs12973063	0.87[GIH][hapmap]
rs12983999	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1860255	0.91[JPT][hapmap]
rs2191019	0.86[JPT][hapmap]
rs2286754	0.94[ASN][1000 genomes]
rs2302188	0.86[JPT][hapmap]
rs2317312	0.83[ASN][1000 genomes]
rs2317314	0.88[CHD][hapmap]
rs3745936	0.82[CEU][hapmap]
rs3826716	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4802119	0.86[JPT][hapmap]
rs4802120	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4802122	0.83[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4803479	0.80[ASN][1000 genomes]
rs4803481	0.88[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs714106	0.86[JPT][hapmap]
rs7249258	0.85[GIH][hapmap]
rs7252454	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252624	0.87[ASN][1000 genomes]
rs7257282	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257565	0.82[ASN][1000 genomes]
rs8113621	0.88[EUR][1000 genomes];0.94[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	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	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
4	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
5	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
6	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7255742	CEACAM21	cis	lymphoblastoid	seeQTL
rs7255742	CEACAM21	cis	Whole Blood	GTEx
rs7255742	CEACAM21	cis	Lymphoblastoid	GTEx
rs7255742	TMEM143	cis	parietal	SCAN
rs7255742	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL
rs7255742	CEACAM21	cis	multi-tissue	Pritchard
rs7255742	R29124_1	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42038600-42050800	Weak transcription	Spleen	Spleen
2	chr19:42043400-42052000	Weak transcription	Right Atrium	heart
3	chr19:42047000-42050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42047400-42050200	Weak transcription	GM12878-XiMat	blood
5	chr19:42048400-42051800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:42048400-42052000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr19:42048600-42051800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:42048600-42051800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:42048600-42051800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:42048600-42052000	Enhancers	Primary T cells from cord blood	blood
11	chr19:42048600-42052000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:42048600-42052000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42048600-42052000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr19:42048600-42052200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:42049000-42050600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:42049000-42051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:42049000-42052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:42049200-42050200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:42049200-42050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42049200-42051400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:42049200-42051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:42049400-42050400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:42049400-42050400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr19:42049400-42050400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:42049400-42050600	Weak transcription	Primary B cells from cord blood	blood
26	chr19:42049600-42050000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:42049800-42050200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:42049800-42050200	Weak transcription	Monocytes-CD14+_RO01746	blood

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