Variant report

Variant	rs9600542
Chromosome Location	chr13:76317638-76317639
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	chr13:76317185..76320050-chr13:76322503..76324953,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1323711	0.92[AFR][1000 genomes]
rs9593121	0.88[AFR][1000 genomes]
rs9600534	0.92[AFR][1000 genomes]
rs9600537	0.92[AFR][1000 genomes]
rs9600541	0.92[AFR][1000 genomes]
rs9600545	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76294800-76321800	Weak transcription	NH-A	brain
2	chr13:76298600-76318800	Weak transcription	Gastric	stomach
3	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
4	chr13:76307200-76318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
6	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:76313600-76324800	Weak transcription	Psoas Muscle	Psoas
8	chr13:76313800-76323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:76314000-76319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:76314000-76323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:76314000-76323800	Weak transcription	Fetal Heart	heart
12	chr13:76314200-76323200	Weak transcription	NHLF	lung
13	chr13:76314400-76317800	Strong transcription	HSMM	muscle
14	chr13:76314600-76318200	Weak transcription	NHDF-Ad	bronchial
15	chr13:76314600-76318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:76314600-76321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:76314600-76321800	Weak transcription	HSMMtube	muscle
18	chr13:76315000-76319200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:76315400-76317800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:76315600-76317800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:76316600-76317800	Weak transcription	Osteobl	bone
22	chr13:76316600-76322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:76317200-76319400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:76317400-76317800	Genic enhancers	Muscle Satellite Cultured Cells	--

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