Variant report

Variant	rs34382598
Chromosome Location	chr12:124520815-124520816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124520612..124521329-chr12:125248666..125249398,2	MCF-7	breast:
2	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
3	chr12:124520800..124522244-chr12:125251340..125252221,6	K562	blood:
4	chr12:124519084..124525003-chr12:124802273..124805989,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12823498	0.90[EUR][1000 genomes]
rs12829378	1.00[EUR][1000 genomes]
rs34331616	1.00[EUR][1000 genomes]
rs34680764	0.96[EUR][1000 genomes]
rs34766405	0.91[EUR][1000 genomes]
rs35217054	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60938452	0.91[EUR][1000 genomes]
rs6488915	0.96[EUR][1000 genomes]
rs71458831	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71458833	0.97[EUR][1000 genomes]
rs71458834	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296124	0.96[EUR][1000 genomes]
rs7956959	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:124513600-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:124515200-124521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:124515400-124521000	Weak transcription	Fetal Stomach	stomach
8	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:124515600-124521000	Weak transcription	Fetal Thymus	thymus
11	chr12:124515600-124521000	Weak transcription	A549	lung
12	chr12:124517000-124521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:124517000-124521000	Weak transcription	NH-A	brain
14	chr12:124517000-124521000	Weak transcription	NHDF-Ad	bronchial
15	chr12:124517000-124521400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:124517000-124521400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:124517200-124521400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:124519200-124525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:124519600-124521600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:124519600-124523400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:124520200-124521200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:124520200-124521800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:124520600-124521000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:124520600-124521200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr12:124520600-124521200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:124520600-124521200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:124520600-124521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:124520600-124521600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:124520600-124521600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:124520600-124521800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:124520600-124522000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:124520600-124522200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:124520600-124522200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:124520600-124522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:124520800-124521200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:124520800-124521200	Enhancers	Hela-S3	cervix
37	chr12:124520800-124521800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:124520800-124521800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:124520800-124521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:124520800-124521800	Enhancers	HSMMtube	muscle
41	chr12:124520800-124522000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:124520800-124522000	Enhancers	HSMM	muscle
43	chr12:124520800-124522200	Enhancers	Osteobl	bone

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