Variant report

Variant	rs13358131
Chromosome Location	chr5:42721938-42721939
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	chr5:42720219..42722168-chr5:42727317..42730144,2	K562	blood:

Variant related genes	Relation type
ENSG00000270513	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10045120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10053691	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10061641	1.00[AMR][1000 genomes]
rs10078817	1.00[AMR][1000 genomes]
rs10079460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360866	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7737177	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
2	chr5:42708800-42722800	Strong transcription	Liver	Liver
3	chr5:42716600-42722000	Weak transcription	HSMMtube	muscle
4	chr5:42718400-42722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:42718400-42722400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:42719400-42723400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:42719600-42722000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:42719600-42722200	Weak transcription	Esophagus	oesophagus
9	chr5:42719600-42722200	Weak transcription	Spleen	Spleen
10	chr5:42719600-42722800	Weak transcription	Fetal Stomach	stomach
11	chr5:42719600-42723800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:42719600-42723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:42719600-42724000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:42719800-42723800	Weak transcription	Fetal Lung	lung
15	chr5:42719800-42724200	Weak transcription	Left Ventricle	heart
16	chr5:42720600-42722200	Weak transcription	Aorta	Aorta
17	chr5:42721200-42722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:42721200-42723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:42721400-42722400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:42721400-42722600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:42721400-42722800	Enhancers	Osteobl	bone
22	chr5:42721600-42722200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:42721600-42722200	Enhancers	HSMM	muscle
24	chr5:42721600-42722600	Strong transcription	Adipose Nuclei	Adipose
25	chr5:42721800-42722400	Enhancers	Monocytes-CD14+_RO01746	blood

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