Variant report

Variant	rs2454702
Chromosome Location	chr12:123209159-123209160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123201536..123203616-chr12:123208338..123210644,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11059384	0.87[ASN][1000 genomes]
rs1798219	0.88[ASN][1000 genomes]
rs2244689	0.87[ASN][1000 genomes]
rs2262194	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454722	0.87[ASN][1000 genomes]
rs2649991	0.88[ASN][1000 genomes]
rs3104613	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3104614	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34699072	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35683065	0.83[ASN][1000 genomes]
rs3922628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759361	0.88[ASN][1000 genomes]
rs4759404	0.83[ASN][1000 genomes]
rs488635	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs491489	0.88[ASN][1000 genomes]
rs492699	0.85[ASN][1000 genomes]
rs507525	0.80[ASN][1000 genomes]
rs509548	0.88[ASN][1000 genomes]
rs525215	0.88[ASN][1000 genomes]
rs526276	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs537527	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs545234	0.84[ASN][1000 genomes]
rs562042	0.88[ASN][1000 genomes]
rs568853	0.88[ASN][1000 genomes]
rs580063	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582452	0.83[ASN][1000 genomes]
rs585465	0.83[ASN][1000 genomes]
rs589154	0.87[ASN][1000 genomes]
rs601339	0.88[ASN][1000 genomes]
rs61955034	0.80[ASN][1000 genomes]
rs630408	0.89[ASN][1000 genomes]
rs632393	0.87[ASN][1000 genomes]
rs635400	0.87[ASN][1000 genomes]
rs643285	0.88[ASN][1000 genomes]
rs645491	0.83[ASN][1000 genomes]
rs6489203	0.83[ASN][1000 genomes]
rs662889	0.84[ASN][1000 genomes]
rs71456771	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296217	0.85[ASN][1000 genomes]
rs7956284	0.86[ASN][1000 genomes]
rs7969523	0.87[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123201200-123214600	Weak transcription	Spleen	Spleen
2	chr12:123201400-123209400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:123201400-123210000	Weak transcription	Primary B cells from cord blood	blood
4	chr12:123205200-123214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:123205800-123209800	Weak transcription	Hela-S3	cervix
6	chr12:123205800-123210400	Weak transcription	Placenta	Placenta
7	chr12:123205800-123210400	Weak transcription	NH-A	brain
8	chr12:123207000-123209400	Weak transcription	NHEK	skin
9	chr12:123207000-123209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123207000-123209600	Weak transcription	HUVEC	blood vessel
11	chr12:123207000-123210000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:123207400-123209600	Weak transcription	HMEC	breast
13	chr12:123207400-123214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:123207800-123209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:123207800-123209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123207800-123210000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:123207800-123214800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:123208000-123209400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:123208000-123209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:123208000-123209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:123208200-123209600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:123208200-123209600	Weak transcription	HepG2	liver
23	chr12:123208200-123209600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:123208200-123209800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:123208200-123210200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:123208200-123214200	Weak transcription	Fetal Thymus	thymus
27	chr12:123208200-123215200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:123208200-123217000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:123208400-123209200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:123208400-123209400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:123208800-123209600	Enhancers	GM12878-XiMat	blood
32	chr12:123209000-123209800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:123209000-123211200	Enhancers	Primary B cells from peripheral blood	blood

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