Variant report

Variant	rs58367604
Chromosome Location	chr12:76032319-76032320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76031206..76033811-chr12:76047362..76050308,2	MCF-7	breast:
2	chr12:76031594..76033128-chr12:76423633..76425806,2	MCF-7	breast:
3	chr12:76032186..76035156-chr12:76036962..76040307,4	K562	blood:
4	chr12:76032058..76036488-chr12:76038031..76041740,5	MCF-7	breast:
5	chr12:76030620..76033278-chr12:76051076..76053073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73363587	0.87[AFR][1000 genomes]
rs73378397	0.87[AFR][1000 genomes]
rs73380303	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76025600-76032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:76026600-76035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:76029400-76034400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:76029600-76033600	Weak transcription	Dnd41	blood
5	chr12:76030000-76034200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:76030000-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:76030000-76034600	Weak transcription	K562	blood
8	chr12:76030200-76033200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:76030200-76034000	Weak transcription	GM12878-XiMat	blood
10	chr12:76030200-76034600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:76030200-76034600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:76030200-76034600	Weak transcription	HSMM	muscle
13	chr12:76030200-76034600	Weak transcription	HSMMtube	muscle
14	chr12:76030400-76032800	Weak transcription	NHEK	skin
15	chr12:76030400-76033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:76030400-76033200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:76030400-76034000	Weak transcription	A549	lung
18	chr12:76030400-76034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:76030400-76034200	Weak transcription	Osteobl	bone
20	chr12:76030400-76034800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:76030400-76034800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:76030400-76035200	Weak transcription	NHLF	lung
23	chr12:76030600-76034200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:76030600-76034400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:76030600-76034800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:76030800-76034400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:76030800-76034600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:76031000-76032400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:76031000-76032600	Weak transcription	HMEC	breast
30	chr12:76031000-76034400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:76031000-76034400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:76031000-76034400	Weak transcription	NHDF-Ad	bronchial
33	chr12:76031000-76034600	Weak transcription	NH-A	brain
34	chr12:76031000-76034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:76031000-76034800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:76032000-76032400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:76032000-76033400	Enhancers	HepG2	liver
38	chr12:76032000-76035800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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