Variant report

Variant	rs9600546
Chromosome Location	chr13:76322793-76322794
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	chr13:76317185..76320050-chr13:76322503..76324953,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12184601	0.88[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17065005	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4514560	1.00[ASW][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61958148	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs689418	0.80[ASN][1000 genomes]
rs9600545	0.80[AFR][1000 genomes]
rs9805323	0.88[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
2	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
3	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:76313600-76324800	Weak transcription	Psoas Muscle	Psoas
5	chr13:76313800-76323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:76314000-76323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76314000-76323800	Weak transcription	Fetal Heart	heart
8	chr13:76314200-76323200	Weak transcription	NHLF	lung
9	chr13:76319000-76323600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:76319000-76323600	Weak transcription	NHEK	skin
11	chr13:76319200-76323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:76321200-76323400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:76321200-76324600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:76321400-76322800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76321400-76322800	Genic enhancers	Osteobl	bone
16	chr13:76321800-76322800	Strong transcription	HSMM	muscle
17	chr13:76322200-76323000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:76322200-76323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:76322200-76324000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:76322200-76324800	Enhancers	NHDF-Ad	bronchial
21	chr13:76322400-76323400	Weak transcription	HSMMtube	muscle
22	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:76322600-76322800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76322600-76323600	Weak transcription	NH-A	brain

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