Variant report

Variant	rs7139879
Chromosome Location	chr13:67209353-67209354
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67204110..67206444-chr13:67209007..67211337,2	K562	blood:

Variant related genes	Relation type
ENSG00000238500	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1555566	0.96[YRI][hapmap]
rs1932885	1.00[MEX][hapmap]
rs2181534	0.92[AFR][1000 genomes]
rs2324958	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6562456	1.00[MEX][hapmap]
rs6562461	1.00[MEX][hapmap]
rs7985173	1.00[MEX][hapmap]
rs9540847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9540856	0.95[YRI][hapmap]
rs9540858	0.90[YRI][hapmap]
rs9571591	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932195	chr13:66215786-67215733	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052017	chr13:66232288-67213033	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv915828	chr13:66544825-67212201	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv2422196	chr13:67041890-67295480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv832639	chr13:67049800-67223701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1041542	chr13:67166358-67341919	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv541816	chr13:67166358-67341919	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1050518	chr13:67168310-67243724	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1037517	chr13:67175615-67234029	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv562130	chr13:67200654-67306783	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67208200-67209600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr13:67208200-67210400	Enhancers	HSMM	muscle
3	chr13:67208400-67209400	Enhancers	NH-A	brain
4	chr13:67208400-67209800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:67208400-67209800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:67208400-67209800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:67208400-67209800	Enhancers	Fetal Heart	heart
8	chr13:67208400-67209800	Enhancers	Psoas Muscle	Psoas
9	chr13:67208400-67209800	Enhancers	HMEC	breast
10	chr13:67208400-67210000	Enhancers	HSMMtube	muscle
11	chr13:67208400-67210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:67208400-67210200	Enhancers	Osteobl	bone
13	chr13:67208400-67210600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:67208600-67209400	Enhancers	Brain Substantia Nigra	brain
15	chr13:67208600-67209600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:67208600-67210600	Enhancers	Hela-S3	cervix
17	chr13:67208600-67210600	Enhancers	HUVEC	blood vessel
18	chr13:67209000-67209400	Enhancers	Brain Anterior Caudate	brain
19	chr13:67209000-67209800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:67209000-67209800	Enhancers	NHEK	skin
21	chr13:67209200-67210000	Enhancers	NHDF-Ad	bronchial

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