Variant report

Variant	rs2780270
Chromosome Location	chr1:113010275-113010276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112936667..112940657-chr1:113004024..113011069,20	MCF-7	breast:
2	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
3	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
4	chr1:113006478..113010487-chr1:113159582..113162671,3	K562	blood:
5	chr1:113008643..113012570-chr1:113247176..113250622,4	MCF-7	breast:
6	chr1:113008891..113010966-chr1:113152258..113154210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1175626	1.00[AFR][1000 genomes]
rs1175635	1.00[AFR][1000 genomes]
rs1777617	1.00[AFR][1000 genomes]
rs2488784	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113008400-113013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113008800-113019200	Weak transcription	Lung	lung
3	chr1:113009200-113013600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113009200-113013600	Weak transcription	Aorta	Aorta
5	chr1:113009200-113014800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:113009200-113019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:113009200-113019200	Weak transcription	Left Ventricle	heart
8	chr1:113009200-113019400	Weak transcription	Esophagus	oesophagus
9	chr1:113009400-113012400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:113009400-113012600	Weak transcription	NHEK	skin
11	chr1:113009600-113012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:113009800-113010400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:113009800-113011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:113009800-113014600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:113009800-113019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:113010000-113013200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:113010000-113014800	Weak transcription	GM12878-XiMat	blood
18	chr1:113010000-113019000	Weak transcription	Spleen	Spleen
19	chr1:113010000-113019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:113010000-113019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:113010000-113019400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:113010200-113013400	Weak transcription	Primary monocytes fromperipheralblood	blood

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