Variant report

Variant	rs717721
Chromosome Location	chr10:50968795-50968796
allele	G/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	ZNF263	chr10:50967858-50968913	HEK293-T-REx	kidney:	n/a	chr10:50968239-50968248

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50963177..50965287-chr10:50968017..50970003,2	K562	blood:
2	chr10:50967343..50969554-chr10:50974712..50977623,2	K562	blood:

Variant related genes	Relation type
OGDHL	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1258173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1258180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1258186	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1258188	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1258198	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7089914	1.00[CHB][hapmap]

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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1048905	chr10:50928727-51019190	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs717721	AGAP6	cis	Esophagus Mucosa	GTEx
rs717721	AGAP6	cis	Whole Blood	GTEx
rs717721	AGAP6	cis	lung	GTEx
rs717721	AGAP6	cis	Nerve Tibial	GTEx
rs717721	AGAP6	cis	Esophagus Muscularis	GTEx
rs717721	CTGLF3	cis	multi-tissue	Pritchard
rs717721	AGAP6	cis	Adipose Subcutaneous	GTEx
rs717721	AGAP6	cis	Muscle Skeletal	GTEx
rs717721	AGAP6	cis	Artery Tibial	GTEx
rs717721	AGAP6	cis	Thyroid	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:50951600-50969200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:50952600-50968800	Weak transcription	Pancreas	Pancrea
5	chr10:50953400-50969400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:50955000-50969000	Weak transcription	Ovary	ovary
7	chr10:50955000-50969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:50960000-50969200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:50960600-50969400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:50960800-50969200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:50965000-50969400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:50965000-50969600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:50965600-50968800	Weak transcription	Brain Germinal Matrix	brain
14	chr10:50965600-50969000	Weak transcription	Fetal Intestine Small	intestine
15	chr10:50966400-50968800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:50966400-50969000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:50966600-50968800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr10:50967200-50969000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:50967800-50969600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:50968400-50969000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:50968400-50969400	Flanking Active TSS	Liver	Liver
22	chr10:50968400-50970800	Active TSS	Brain Angular Gyrus	brain
23	chr10:50968600-50968800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr10:50968600-50968800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:50968600-50968800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:50968600-50968800	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr10:50968600-50969200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:50968600-50970600	Active TSS	Brain Cingulate Gyrus	brain

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