Variant report

Variant	rs12981138
Chromosome Location	chr19:56643367-56643368
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	CEBPB	chr19:56643330-56643576	K562	blood:	n/a	chr19:56643469-56643480
2	CEBPB	chr19:56643324-56643576	HepG2	liver:	n/a	chr19:56643469-56643480
3	CEBPB	chr19:56643355-56643606	Hela-S3	cervix:	n/a	chr19:56643469-56643480
4	CEBPB	chr19:56643240-56643588	MCF-7	breast:	n/a	chr19:56643469-56643480
5	CEBPB	chr19:56643339-56643650	HepG2	liver:	n/a	chr19:56643469-56643480
6	CEBPB	chr19:56643326-56643526	H1-hESC	embryonic stem cell:	n/a	chr19:56643469-56643480
7	CEBPB	chr19:56643179-56643757	A549	lung:	n/a	chr19:56643469-56643480
8	CEBPB	chr19:56643302-56643648	IMR90	lung:	n/a	chr19:56643469-56643480
9	CEBPB	chr19:56643310-56643641	A549	lung:	n/a	chr19:56643469-56643480

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56642703..56647128-chr19:56651543..56655262,4	MCF-7	breast:

Variant related genes	Relation type
ZNF444	TF binding region
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11673628	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12983086	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450439	0.87[ASN][1000 genomes]
rs2631625	0.83[ASN][1000 genomes]
rs2631627	0.87[ASN][1000 genomes]
rs2631628	0.87[ASN][1000 genomes]
rs2631631	0.86[ASN][1000 genomes]
rs2631637	0.83[ASN][1000 genomes]
rs2637092	0.87[ASN][1000 genomes]
rs2637094	0.84[ASN][1000 genomes]
rs2637097	0.85[ASN][1000 genomes]
rs2637114	0.85[ASN][1000 genomes]
rs2932757	0.85[ASN][1000 genomes]
rs35766803	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs473953	0.85[ASN][1000 genomes]
rs478402	0.83[ASN][1000 genomes]
rs4801294	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4801676	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs490345	0.87[ASN][1000 genomes]
rs497453	0.82[ASN][1000 genomes]
rs506547	0.85[ASN][1000 genomes]
rs517021	0.82[ASN][1000 genomes]
rs524778	0.80[ASN][1000 genomes]
rs524829	0.80[ASN][1000 genomes]
rs524988	0.82[ASN][1000 genomes]
rs525827	0.84[ASN][1000 genomes]
rs527715	0.84[ASN][1000 genomes]
rs565879	0.82[ASN][1000 genomes]
rs572851	0.85[ASN][1000 genomes]
rs578990	0.80[ASN][1000 genomes]
rs578991	0.85[ASN][1000 genomes]
rs583330	0.85[ASN][1000 genomes]
rs592827	0.83[ASN][1000 genomes]
rs626821	0.85[ASN][1000 genomes]
rs629544	0.83[ASN][1000 genomes]
rs640654	0.85[ASN][1000 genomes]
rs643133	0.84[ASN][1000 genomes]
rs643174	0.82[ASN][1000 genomes]
rs659424	0.84[ASN][1000 genomes]
rs662308	0.87[ASN][1000 genomes]
rs662763	0.85[ASN][1000 genomes]
rs665082	0.87[ASN][1000 genomes]
rs665857	0.87[ASN][1000 genomes]
rs667438	0.81[ASN][1000 genomes]
rs667523	0.80[ASN][1000 genomes]
rs667974	0.80[ASN][1000 genomes]
rs677127	0.87[ASN][1000 genomes]
rs678540	0.87[ASN][1000 genomes]
rs684653	0.80[ASN][1000 genomes]
rs685117	0.83[ASN][1000 genomes]
rs8103672	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9676765	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56634000-56645400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:56637400-56645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:56637800-56645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:56637800-56647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:56638600-56643800	Weak transcription	HSMM	muscle
6	chr19:56638600-56643800	Weak transcription	HSMMtube	muscle
7	chr19:56638600-56651200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:56638800-56651800	Weak transcription	Spleen	Spleen
9	chr19:56639000-56647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:56639200-56643400	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:56639200-56645200	Weak transcription	K562	blood
12	chr19:56639200-56645600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:56640800-56644600	Enhancers	Fetal Lung	lung
14	chr19:56640800-56649000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr19:56641000-56643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:56641600-56643600	Weak transcription	Aorta	Aorta
17	chr19:56642600-56647800	Enhancers	Placenta	Placenta
18	chr19:56643000-56643600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:56643000-56644000	Weak transcription	Fetal Kidney	kidney
20	chr19:56643000-56644200	Enhancers	Fetal Heart	heart
21	chr19:56643200-56643600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:56643200-56643600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:56643200-56643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:56643200-56643800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:56643200-56643800	Enhancers	Stomach Smooth Muscle	stomach
26	chr19:56643200-56643800	Enhancers	Osteobl	bone
27	chr19:56643200-56644200	Enhancers	Left Ventricle	heart
28	chr19:56643200-56644200	Enhancers	HepG2	liver
29	chr19:56643200-56644400	Enhancers	Fetal Stomach	stomach
30	chr19:56643200-56644800	Enhancers	Adipose Nuclei	Adipose
31	chr19:56643200-56645000	Enhancers	Ovary	ovary
32	chr19:56643200-56645800	Enhancers	Fetal Muscle Trunk	muscle

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