Variant report

Variant	rs9593124
Chromosome Location	chr13:76313524-76313525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13378674	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17706332	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17706535	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7982226	1.00[JPT][hapmap]
rs9544027	1.00[JPT][hapmap]
rs9544064	1.00[JPT][hapmap]
rs9593136	1.00[JPT][hapmap]
rs9600565	1.00[JPT][hapmap]
rs9600566	1.00[JPT][hapmap]
rs9600569	1.00[JPT][hapmap]
rs9600570	1.00[JPT][hapmap]
rs9600576	1.00[JPT][hapmap]

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:34 , 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	chr13:76308200-76314800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
7	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:76309200-76314200	Weak transcription	Right Atrium	heart
9	chr13:76309600-76315000	Genic enhancers	Osteobl	bone
10	chr13:76310200-76316000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:76311000-76314800	Weak transcription	Aorta	Aorta
12	chr13:76312000-76315000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:76312400-76314400	Genic enhancers	HSMM	muscle
14	chr13:76312600-76314600	Enhancers	NHDF-Ad	bronchial
15	chr13:76312800-76313800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr13:76312800-76314000	Enhancers	Fetal Heart	heart
17	chr13:76312800-76314600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:76312800-76315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:76313000-76313600	Enhancers	Psoas Muscle	Psoas
20	chr13:76313000-76313600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:76313000-76313800	Enhancers	Fetal Muscle Leg	muscle
22	chr13:76313000-76314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76313000-76314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:76313000-76314200	Enhancers	NHLF	lung
25	chr13:76313000-76314400	Flanking Active TSS	GM12878-XiMat	blood
26	chr13:76313000-76314600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:76313000-76315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76313200-76313600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:76313200-76314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:76313200-76314200	Enhancers	HMEC	breast
31	chr13:76313200-76314800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:76313400-76313600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:76313400-76313800	Flanking Active TSS	HSMMtube	muscle
34	chr13:76313400-76314000	Enhancers	HUVEC	blood vessel

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