Variant report

Variant	rs3104613
Chromosome Location	chr12:123204419-123204420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123204275..123207099-chr12:123214252..123216398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196917	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11059384	0.86[ASN][1000 genomes]
rs1696352	0.80[ASN][1000 genomes]
rs17884481	0.80[ASN][1000 genomes]
rs1798192	0.80[ASN][1000 genomes]
rs1798219	0.87[ASN][1000 genomes]
rs2244689	0.86[ASN][1000 genomes]
rs2262194	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454702	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2454722	0.86[ASN][1000 genomes]
rs2649991	0.87[ASN][1000 genomes]
rs3104614	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699072	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35683065	0.82[ASN][1000 genomes]
rs3922628	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4759361	0.87[ASN][1000 genomes]
rs4759404	0.82[ASN][1000 genomes]
rs488635	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs491489	0.87[ASN][1000 genomes]
rs492699	0.85[ASN][1000 genomes]
rs509548	0.87[ASN][1000 genomes]
rs525215	0.87[ASN][1000 genomes]
rs526276	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs537527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs545234	0.83[ASN][1000 genomes]
rs562042	0.87[ASN][1000 genomes]
rs568853	0.87[ASN][1000 genomes]
rs580063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582452	0.82[ASN][1000 genomes]
rs585465	0.83[ASN][1000 genomes]
rs589154	0.86[ASN][1000 genomes]
rs601339	0.87[ASN][1000 genomes]
rs61955034	0.81[ASN][1000 genomes]
rs630408	0.88[ASN][1000 genomes]
rs632393	0.86[ASN][1000 genomes]
rs635400	0.86[ASN][1000 genomes]
rs643285	0.87[ASN][1000 genomes]
rs645491	0.83[ASN][1000 genomes]
rs648183	0.80[ASN][1000 genomes]
rs6489203	0.82[ASN][1000 genomes]
rs662889	0.83[ASN][1000 genomes]
rs680838	0.80[ASN][1000 genomes]
rs680934	0.80[ASN][1000 genomes]
rs681317	0.80[ASN][1000 genomes]
rs71456771	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296217	0.85[ASN][1000 genomes]
rs7956284	0.85[ASN][1000 genomes]
rs7969523	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13329	chr12:123178106-123210671	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123199400-123204600	Weak transcription	HMEC	breast
2	chr12:123200200-123204600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:123200200-123205600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:123200800-123207800	Weak transcription	Lung	lung
5	chr12:123201000-123207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:123201200-123206600	Weak transcription	Esophagus	oesophagus
7	chr12:123201200-123214600	Weak transcription	Spleen	Spleen
8	chr12:123201400-123204600	Weak transcription	NHEK	skin
9	chr12:123201400-123206400	Weak transcription	Fetal Thymus	thymus
10	chr12:123201400-123209400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:123201400-123210000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:123201600-123204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:123201600-123204800	Weak transcription	Hela-S3	cervix
14	chr12:123202000-123204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:123202200-123204800	Weak transcription	HepG2	liver
16	chr12:123203200-123204800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:123203400-123204800	Enhancers	GM12878-XiMat	blood
18	chr12:123203400-123206600	Weak transcription	Right Atrium	heart
19	chr12:123204200-123205800	Enhancers	Adipose Nuclei	Adipose
20	chr12:123204200-123208200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:123204200-123208200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:123204400-123208000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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