Variant report

Variant	rs12822171
Chromosome Location	chr12:63006502-63006503
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	chr12:63006185..63009831-chr12:63011084..63015351,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MON2-2	chr12:62997216-63015942	NONHSAT029092

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10877888	0.81[JPT][hapmap]
rs10877889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877894	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877895	0.81[CHB][hapmap]
rs10877900	0.92[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11174572	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174573	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174577	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12308388	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1498712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2048499	0.85[EUR][1000 genomes]
rs2132358	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2133302	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137950	0.92[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7968360	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][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	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62997800-63012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:62997800-63019200	Weak transcription	Spleen	Spleen
3	chr12:62998000-63010200	Weak transcription	Lung	lung
4	chr12:62998000-63019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:62998800-63012800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:62999000-63006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:62999000-63019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:62999200-63012200	Weak transcription	Fetal Thymus	thymus
9	chr12:62999200-63013200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:62999400-63010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:62999400-63012000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:62999400-63025000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:62999600-63011600	Weak transcription	Fetal Stomach	stomach
14	chr12:62999600-63012800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:62999800-63012600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:62999800-63013400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:63000000-63009400	Weak transcription	HSMMtube	muscle
18	chr12:63000000-63012400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:63000000-63019000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:63000200-63012400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:63000200-63013000	Weak transcription	NHLF	lung
22	chr12:63000200-63015000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:63000200-63020600	Weak transcription	HMEC	breast
24	chr12:63000600-63009000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:63000600-63009200	Weak transcription	Psoas Muscle	Psoas
26	chr12:63000600-63019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:63000800-63009800	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:63000800-63011200	Weak transcription	Aorta	Aorta
29	chr12:63000800-63014600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:63000800-63024200	Weak transcription	Fetal Brain Female	brain
31	chr12:63001000-63007000	Weak transcription	Fetal Brain Male	brain
32	chr12:63001000-63019400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:63001200-63010000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:63001200-63011400	Weak transcription	HUVEC	blood vessel
35	chr12:63002000-63007200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:63003200-63008600	Weak transcription	HSMM	muscle
37	chr12:63003200-63023800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:63003800-63011200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:63004000-63009000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:63004800-63014600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:63005000-63017600	Weak transcription	Left Ventricle	heart
42	chr12:63005000-63019000	Weak transcription	Placenta	Placenta
43	chr12:63005800-63007000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:63005800-63007200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:63005800-63007200	Strong transcription	Osteobl	bone
46	chr12:63005800-63008400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:63006000-63007800	Strong transcription	NH-A	brain
48	chr12:63006000-63008000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:63006000-63009800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:63006000-63011400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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