Variant report

Variant	rs2108926
Chromosome Location	chr6:28308747-28308748
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:28307937-28308888	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28220144..28224072-chr6:28306303..28309254,3	K562	blood:

Variant related genes	Relation type
ZSCAN31	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016070	0.86[CHB][hapmap]
rs12000	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12180820	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997660	0.86[EUR][1000 genomes]
rs2021745	0.86[CHB][hapmap]
rs213239	0.81[YRI][hapmap]
rs213243	0.81[YRI][hapmap]
rs2531813	0.86[CHB][hapmap]
rs2531814	0.86[CHB][hapmap]
rs2859372	0.86[CHB][hapmap]
rs2859373	0.86[CHB][hapmap]
rs2859374	0.86[CHB][hapmap]
rs4713158	0.86[EUR][1000 genomes]
rs6456815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936644	0.92[ASN][1000 genomes]
rs6942030	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707907	0.85[EUR][1000 genomes]
rs758398	0.86[CHB][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7772827	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs853683	0.86[EUR][1000 genomes]
rs853690	0.86[EUR][1000 genomes]
rs853693	0.86[EUR][1000 genomes]
rs9468333	0.86[EUR][1000 genomes]
rs9468334	0.89[ASN][1000 genomes]
rs9468344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2108926	AL022393.7	cis	Esophagus Muscularis	GTEx
rs2108926	AL022393.7	cis	Muscle Skeletal	GTEx
rs2108926	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2108926	ZSCAN31	cis	lung	GTEx
rs2108926	RP5-874C20.3	cis	Thyroid	GTEx
rs2108926	ZSCAN23	cis	Artery Tibial	GTEx
rs2108926	AL022393.7	cis	Nerve Tibial	GTEx
rs2108926	AL022393.7	cis	Heart Left Ventricle	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28304400-28317400	Weak transcription	Pancreas	Pancrea
2	chr6:28304800-28317200	Weak transcription	Aorta	Aorta
3	chr6:28305000-28310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:28305000-28317200	Weak transcription	Brain Anterior Caudate	brain
5	chr6:28305000-28317200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:28305200-28311800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:28305200-28313800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:28305200-28317000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:28305200-28317000	Weak transcription	NHEK	skin
10	chr6:28305200-28317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:28305200-28317200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:28305200-28317200	Weak transcription	HSMMtube	muscle
13	chr6:28305800-28317200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:28307600-28309400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:28308000-28308800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr6:28308600-28308800	Flanking Active TSS	Dnd41	blood

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