Variant report

Variant	rs11598949
Chromosome Location	chr10:51133806-51133807
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	POLR2A	chr10:51133704-51134381	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PARG	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11598461	0.80[AFR][1000 genomes]
rs2377698	0.80[AFR][1000 genomes]
rs3877001	0.80[AFR][1000 genomes]
rs4012652	0.80[AFR][1000 genomes]
rs4838573	0.80[AFR][1000 genomes]
rs5013289	0.84[AFR][1000 genomes]
rs61846915	0.80[AFR][1000 genomes]
rs61846922	0.80[AFR][1000 genomes]
rs61846931	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895379	chr10:51022933-51187793	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv32940	chr10:51051718-51488059	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv895381	chr10:51094660-51515534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11598949	AGAP6	cis	Thyroid	GTEx
rs11598949	AGAP6	cis	Artery Tibial	GTEx
rs11598949	AGAP6	cis	Skin Sun Exposed Lower leg	GTEx
rs11598949	AGAP6	cis	Esophagus Muscularis	GTEx
rs11598949	AGAP6	cis	Esophagus Mucosa	GTEx
rs11598949	AGAP6	cis	Nerve Tibial	GTEx
rs11598949	AGAP6	cis	Adipose Subcutaneous	GTEx
rs11598949	AGAP6	cis	Whole Blood	GTEx
rs11598949	AGAP6	cis	lung	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51084600-51136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:51084600-51136600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:51084600-51137800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:51085400-51138200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:51085400-51138600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:51091200-51138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:51095000-51137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:51100800-51137600	Weak transcription	Lung	lung
9	chr10:51102000-51138000	Weak transcription	Spleen	Spleen
10	chr10:51103800-51138000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:51108800-51137400	Weak transcription	Ovary	ovary
12	chr10:51109000-51138200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:51110000-51137600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:51110400-51137400	Weak transcription	Thymus	Thymus
15	chr10:51111200-51136200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:51111800-51137600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:51112200-51137800	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:51116000-51136400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:51116200-51137600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:51116400-51137600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:51116600-51134400	Weak transcription	HepG2	liver
22	chr10:51116600-51135800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:51116600-51137600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:51117000-51136200	Weak transcription	A549	lung
25	chr10:51117000-51136600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:51117600-51136800	Weak transcription	Left Ventricle	heart
27	chr10:51118800-51137400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:51119200-51134600	Weak transcription	Gastric	stomach
29	chr10:51119200-51138400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:51119400-51136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:51119600-51137600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:51119600-51137600	Weak transcription	NH-A	brain
33	chr10:51120600-51137600	Weak transcription	HSMM	muscle
34	chr10:51121000-51136000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:51121200-51134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:51121200-51138200	Weak transcription	NHEK	skin
37	chr10:51121400-51134600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr10:51121400-51136200	Weak transcription	Brain Anterior Caudate	brain
39	chr10:51122800-51134400	Weak transcription	Primary T cells from cord blood	blood
40	chr10:51122800-51136000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr10:51122800-51136400	Weak transcription	K562	blood
42	chr10:51122800-51136600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:51123000-51134600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:51123000-51136200	Weak transcription	Primary B cells from cord blood	blood
45	chr10:51123000-51137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:51123200-51137800	Weak transcription	Hela-S3	cervix
47	chr10:51124600-51137000	Weak transcription	Pancreas	Pancrea
48	chr10:51127600-51136200	Weak transcription	Adipose Nuclei	Adipose
49	chr10:51128400-51134600	Weak transcription	Fetal Stomach	stomach
50	chr10:51128400-51136200	Weak transcription	HMEC	breast

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