Variant report

Variant	rs71457114
Chromosome Location	chr12:12162730-12162731
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	chr12:12161417..12164004-chr12:12173904..12175896,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10505760	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505761	0.81[EUR][1000 genomes]
rs10845448	0.99[ASN][1000 genomes]
rs10845449	0.88[EUR][1000 genomes]
rs11054605	0.90[EUR][1000 genomes]
rs1124833	0.81[EUR][1000 genomes]
rs12830229	0.80[EUR][1000 genomes]
rs33910264	0.81[EUR][1000 genomes]
rs34536892	0.81[EUR][1000 genomes]
rs35279937	0.81[EUR][1000 genomes]
rs35395338	0.81[EUR][1000 genomes]
rs67444818	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133512	0.88[EUR][1000 genomes]
rs71457113	0.82[EUR][1000 genomes]
rs7300879	0.90[EUR][1000 genomes]
rs7313230	0.83[EUR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12154600-12163200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:12159200-12163000	Enhancers	GM12878-XiMat	blood
3	chr12:12159800-12162800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:12159800-12162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:12160000-12163000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:12160000-12163000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:12160000-12163200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:12160000-12163200	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:12160200-12163000	Enhancers	Primary B cells from cord blood	blood
10	chr12:12160200-12163000	Enhancers	Primary T cells from cord blood	blood
11	chr12:12160200-12163200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:12160200-12163200	Enhancers	Fetal Thymus	thymus
13	chr12:12160200-12163200	Enhancers	Thymus	Thymus
14	chr12:12160200-12164600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:12160200-12164600	Enhancers	NH-A	brain
16	chr12:12160200-12165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12160400-12162800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:12160400-12164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12160400-12164800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12160600-12163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:12160600-12163200	Weak transcription	Lung	lung
22	chr12:12160800-12164800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:12160800-12165400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:12161200-12162800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:12161200-12162800	Enhancers	Dnd41	blood
26	chr12:12161200-12164600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:12161200-12164600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:12161400-12164600	Enhancers	NHEK	skin
29	chr12:12161600-12163200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:12161600-12164400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:12161600-12164400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:12161600-12164600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:12161600-12164600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:12161600-12164600	Enhancers	HMEC	breast
35	chr12:12161600-12164800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:12161600-12164800	Enhancers	HSMM	muscle
37	chr12:12161600-12165200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:12161800-12163000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:12161800-12163000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:12161800-12163000	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:12161800-12163200	Enhancers	Colonic Mucosa	Colon
42	chr12:12162000-12163200	Enhancers	Osteobl	bone
43	chr12:12162000-12163800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:12162000-12164600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:12162000-12164600	Enhancers	Stomach Mucosa	stomach
46	chr12:12162000-12164800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:12162000-12164800	Enhancers	Fetal Muscle Trunk	muscle
48	chr12:12162200-12162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:12162200-12162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:12162200-12163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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