Variant report

Variant	rs7316275
Chromosome Location	chr12:48569381-48569382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48499208..48501475-chr12:48568768..48571345,3	K562	blood:
2	chr12:48569322..48571275-chr12:48595629..48597688,2	K562	blood:

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction
ENSG00000172640	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56187356	0.85[AFR][1000 genomes]
rs57539024	1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59051221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59643562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787033	1.00[AMR][1000 genomes]
rs59896935	1.00[AMR][1000 genomes]
rs60001451	1.00[AMR][1000 genomes]
rs60316794	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61558457	1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	1.00[AMR][1000 genomes]
rs74089120	1.00[AMR][1000 genomes]
rs74089127	1.00[AMR][1000 genomes]
rs74089135	1.00[AMR][1000 genomes]
rs74089149	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089155	0.85[AFR][1000 genomes]
rs74089161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48569000-48569400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:48569000-48569400	Enhancers	K562	blood
3	chr12:48569000-48569600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:48569000-48570400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:48569000-48570400	Enhancers	Fetal Stomach	stomach
6	chr12:48569000-48571200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:48569200-48569400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:48569200-48569600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:48569200-48569600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:48569200-48569800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:48569200-48570000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:48569200-48570000	Enhancers	Fetal Kidney	kidney
13	chr12:48569200-48570200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48569200-48570400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:48569200-48570400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:48569200-48571400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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