Variant report

Variant	rs56261258
Chromosome Location	chr19:45149613-45149614
allele	C/T
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	POLR2A	chr19:45149608-45149962	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:45148928-45149781	HUVEC	blood vessel:	n/a	n/a
3	TCF12	chr19:45149259-45149824	A549	lung:	n/a	n/a
4	POLR2A	chr19:45148677-45149830	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45148126..45150959-chr19:45153045..45156023,2	K562	blood:
2	chr19:45149403..45152148-chr19:45154474..45156366,2	K562	blood:
3	chr19:45147094..45148808-chr19:45149467..45152344,2	MCF-7	breast:

Variant related genes	Relation type
PVR	TF binding region
ENSG00000073008	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs714948	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8103315	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv3356756	chr19:45147137-45149985	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3430671	chr19:45147612-45149810	Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3417521	chr19:45149062-45152260	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56261258	CEACAM19	cis	Thyroid	GTEx
rs56261258	CEACAM19	cis	Artery Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45148000-45149800	Weak transcription	Fetal Heart	heart
2	chr19:45148000-45150600	Weak transcription	Esophagus	oesophagus
3	chr19:45148000-45150600	Weak transcription	Gastric	stomach
4	chr19:45148000-45150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:45148000-45151400	Weak transcription	GM12878-XiMat	blood
6	chr19:45148000-45151600	Weak transcription	Aorta	Aorta
7	chr19:45148000-45152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:45148000-45153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:45148000-45153200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:45148000-45153200	Weak transcription	Small Intestine	intestine
11	chr19:45148000-45165000	Weak transcription	K562	blood
12	chr19:45148200-45150200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:45148200-45150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:45148200-45150400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:45148200-45150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:45148200-45150400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:45148200-45150400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:45148200-45150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:45148200-45150400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:45148200-45150400	Weak transcription	Lung	lung
21	chr19:45148200-45150400	Weak transcription	Ovary	ovary
22	chr19:45148200-45150400	Weak transcription	HSMM	muscle
23	chr19:45148200-45150600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:45148200-45150600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:45148200-45150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:45148200-45150600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:45148200-45150600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:45148200-45150600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:45148200-45150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:45148200-45150600	Weak transcription	Brain Angular Gyrus	brain
31	chr19:45148200-45150600	Weak transcription	Brain Germinal Matrix	brain
32	chr19:45148200-45150600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:45148200-45150600	Weak transcription	Colonic Mucosa	Colon
34	chr19:45148200-45150600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:45148200-45150600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:45148200-45150600	Weak transcription	Spleen	Spleen
37	chr19:45148200-45150600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:45148200-45150600	Weak transcription	NHDF-Ad	bronchial
39	chr19:45148200-45150800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:45148200-45150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:45148200-45150800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:45148200-45150800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr19:45148200-45151200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:45148200-45151200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:45148200-45151200	Weak transcription	Brain Anterior Caudate	brain
46	chr19:45148200-45151200	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:45148200-45151200	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:45148200-45151200	Weak transcription	Fetal Brain Female	brain
49	chr19:45148200-45151200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr19:45148200-45151200	Weak transcription	Rectal Smooth Muscle	rectum

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