Variant report

Variant	rs74080935
Chromosome Location	chr12:45603004-45603005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45600294..45606822-chr12:45606984..45612571,15	K562	blood:
2	chr12:45601556..45603272-chr12:45608951..45610843,2	K562	blood:
3	chr12:45600941..45603033-chr12:45611069..45612571,2	K562	blood:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs17095452	0.91[AFR][1000 genomes]
rs55994528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162044	1.00[AMR][1000 genomes]
rs56409009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56672176	0.90[AFR][1000 genomes]
rs56842412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57283482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57514011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57516582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57752448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58615264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59111701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61679354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080682	0.90[AFR][1000 genomes]
rs74080804	1.00[AMR][1000 genomes]
rs74080853	0.90[AFR][1000 genomes]
rs74080929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083403	0.86[AFR][1000 genomes]
rs74083404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
2	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
3	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:45600000-45608600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:45600200-45607800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:45600200-45607800	Weak transcription	GM12878-XiMat	blood
7	chr12:45600200-45608000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45600200-45608000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:45600200-45608600	Weak transcription	Thymus	Thymus
10	chr12:45600400-45608000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:45600400-45608200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45600400-45608200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45600400-45608400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:45601400-45603200	Enhancers	K562	blood
15	chr12:45601400-45603400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:45601400-45603400	Enhancers	HepG2	liver
17	chr12:45602200-45603400	Enhancers	A549	lung
18	chr12:45602400-45603200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:45602400-45603200	Enhancers	NHEK	skin
20	chr12:45602400-45603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:45603000-45603200	Enhancers	Ovary	ovary
22	chr12:45603000-45603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:45603000-45603400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:45603000-45603400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:45603000-45603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:45603000-45603400	Enhancers	Liver	Liver
27	chr12:45603000-45603400	Enhancers	HMEC	breast
28	chr12:45603000-45603400	Enhancers	NHLF	lung
29	chr12:45603000-45604000	Enhancers	Primary B cells from peripheral blood	blood

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