Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63468625..63471067-chr12:63476641..63478768,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10747974	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4622324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7137947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7138569	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2751108	chr12:63445933-63503952	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63472800-63480400	Enhancers	Fetal Intestine Small	intestine
2	chr12:63473400-63480600	Enhancers	Fetal Intestine Large	intestine
3	chr12:63474000-63479200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:63474200-63485800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:63475200-63487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:63477000-63480400	Enhancers	Fetal Kidney	kidney
7	chr12:63477600-63480600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:63477600-63480600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:63477600-63480600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:63477600-63481400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:63477800-63479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:63477800-63480000	Weak transcription	Liver	Liver
13	chr12:63477800-63480200	Weak transcription	Gastric	stomach
14	chr12:63478200-63479000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:63478200-63479400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:63478200-63480400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:63478400-63479000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:63478400-63480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:63478600-63479800	Weak transcription	Stomach Mucosa	stomach
20	chr12:63478600-63480400	Enhancers	HUES48 Cell Line	embryonic stem cell

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