Variant report

Variant	rs56059979
Chromosome Location	chr1:212861956-212861957
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	chr1:212861799-212862074	HepG2	liver:	n/a	chr1:212861909-212861920
2	CEBPB	chr1:212861744-212862282	IMR90	lung:	n/a	chr1:212861909-212861920
3	CEBPB	chr1:212861739-212862279	Hela-S3	cervix:	n/a	chr1:212861909-212861920
4	FOS	chr1:212861873-212862041	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr1:212861778-212862071	A549	lung:	n/a	chr1:212861909-212861920
6	EP300	chr1:212861753-212862047	Hela-S3	cervix:	n/a	n/a
7	MYC	chr1:212861940-212862194	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:212861903-212862287	MCF10A-Er-Src	breast:	n/a	chr1:212862217-212862229

No.	Distal block	Cell Line	Cell type
1	chr1:212860743..212863058-chr1:212869735..212872128,3	K562	blood:
2	chr1:212786724..212788498-chr1:212861263..212863141,2	K562	blood:
3	chr1:212785776..212788498-chr1:212861263..212863203,2	K562	blood:

Variant related genes	Relation type
RNU6-423P	TF binding region
BATF3	TF binding region
ENSG00000123685	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11571523	1.00[AMR][1000 genomes]
rs11571525	1.00[AMR][1000 genomes]
rs11571531	1.00[AMR][1000 genomes]
rs41296670	1.00[AMR][1000 genomes]
rs55727989	1.00[AMR][1000 genomes]
rs58964221	1.00[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212856200-212862600	Weak transcription	Lung	lung
3	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:212857200-212862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:212857200-212862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:212857200-212871600	Weak transcription	Dnd41	blood
7	chr1:212857600-212863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:212857800-212866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:212858600-212872200	Weak transcription	Gastric	stomach
11	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
12	chr1:212859200-212864400	Weak transcription	GM12878-XiMat	blood
13	chr1:212860000-212862800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:212860200-212863600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212860400-212863200	Weak transcription	Spleen	Spleen
16	chr1:212861400-212862600	Enhancers	NHLF	lung
17	chr1:212861600-212862400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:212861600-212862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212861600-212862800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:212861600-212863600	Enhancers	Fetal Lung	lung
21	chr1:212861600-212863800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:212861600-212863800	Enhancers	Placenta	Placenta
23	chr1:212861800-212862400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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