Variant report

Variant	rs12116756
Chromosome Location	chr1:161716078-161716079
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161694824..161696794-chr1:161715386..161716968,2	K562	blood:
2	chr1:161709954..161712481-chr1:161715478..161718294,2	MCF-7	breast:
3	chr1:161708205..161716175-chr1:161716206..161720292,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162746	Chromatin interaction
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1027701	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1027702	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12121522	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12564653	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1340981	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1417580	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1417581	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2174208	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4657096	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4657097	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4657098	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6427624	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427625	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427626	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7540096	0.90[AMR][1000 genomes];0.90[ASN][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161706800-161718800	Weak transcription	NH-A	brain
2	chr1:161707600-161719200	Weak transcription	NHLF	lung
3	chr1:161711400-161718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:161711600-161717600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:161711600-161718600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:161714000-161718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:161714000-161718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:161714000-161718800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:161714000-161718800	Weak transcription	HMEC	breast
10	chr1:161714000-161719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:161714200-161718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:161714400-161718800	Weak transcription	NHDF-Ad	bronchial
13	chr1:161714400-161718800	Weak transcription	Osteobl	bone
14	chr1:161714600-161718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:161714600-161719000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:161714600-161719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:161714800-161719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:161715400-161717600	Weak transcription	K562	blood
19	chr1:161715400-161718600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:161715400-161718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:161715600-161717200	Weak transcription	GM12878-XiMat	blood

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