Variant report

Variant	rs706593
Chromosome Location	chr13:51283578-51283579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1772866	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2706236	0.81[EUR][1000 genomes]
rs797494	0.82[EUR][1000 genomes]
rs797496	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs797498	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs797504	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs797505	0.94[ASN][1000 genomes]
rs797506	0.94[ASN][1000 genomes]
rs797507	0.92[ASN][1000 genomes]
rs797509	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs706593	INTS6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51269400-51296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:51272800-51285600	Weak transcription	Fetal Stomach	stomach
3	chr13:51280000-51284200	Enhancers	Dnd41	blood
4	chr13:51281600-51283800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:51281800-51283600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr13:51281800-51283600	Enhancers	Right Atrium	heart
7	chr13:51282400-51286600	Weak transcription	HSMMtube	muscle
8	chr13:51282600-51287200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:51282600-51287400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:51282600-51287400	Enhancers	Fetal Heart	heart
11	chr13:51282800-51285400	Weak transcription	Brain Angular Gyrus	brain
12	chr13:51282800-51285600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:51282800-51286800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:51282800-51287000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:51282800-51287400	Weak transcription	Primary B cells from cord blood	blood
16	chr13:51282800-51287600	Weak transcription	Thymus	Thymus
17	chr13:51283000-51285000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:51283000-51285600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:51283000-51285600	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:51283000-51286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:51283000-51287000	Weak transcription	Fetal Thymus	thymus
22	chr13:51283200-51284600	Weak transcription	Brain Substantia Nigra	brain
23	chr13:51283400-51284400	Weak transcription	Fetal Lung	lung
24	chr13:51283400-51285800	Weak transcription	Monocytes-CD14+_RO01746	blood

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