Variant report

Variant	rs2286560
Chromosome Location	chr17:66537304-66537305
allele	A/G
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	chr17:66535309-66537860	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:66535303-66540040	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:66534614-66539539	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:66533313-66538368	K562	blood:	n/a	n/a
5	POLR2A	chr17:66536375-66537479	K562	blood:	n/a	n/a
6	POLR2A	chr17:66536711-66537499	U87	brain:	n/a	n/a
7	POLR2A	chr17:66537094-66537933	GM12891	blood:	n/a	n/a
8	POLR2A	chr17:66535594-66537947	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:66537283-66537440	A549	lung:	n/a	n/a
10	POLR2A	chr17:66535238-66538921	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:66534939-66538247	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr17:66537177-66537457	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:66537270-66538700	A549	lung:	n/a	n/a
14	POLR2A	chr17:66536705-66537534	U87	brain:	n/a	n/a
15	POLR2A	chr17:66537246-66537468	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOSL2	chr17:66535224-66539318	HepG2	liver:	n/a	chr17:66536355-66536369 chr17:66537173-66537182
17	POLR2A	chr17:66537243-66537457	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:66535960-66537843	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr17:66536535-66538172	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr17:66537300-66537468	A549	lung:	n/a	n/a
21	POLR2A	chr17:66537277-66537405	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:66537282-66538908	HepG2	liver:	n/a	n/a
23	POLR2A	chr17:66537147-66537658	GM12891	blood:	n/a	n/a
24	POLR2A	chr17:66537172-66537548	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:66528378-66541028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66521050..66523596-chr17:66535298..66538130,2	K562	blood:
2	chr17:66523700..66527434-chr17:66534416..66537406,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269657	TF binding region
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2286561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286562	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8079916	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv510723	chr17:66529668-66557425	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2286560	PRKAR1A	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:66514800-66537400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:66514800-66537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:66517200-66537600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:66518200-66537600	Strong transcription	Primary T cells from cord blood	blood
6	chr17:66518200-66537800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr17:66518600-66538200	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:66519800-66537800	Strong transcription	Brain Anterior Caudate	brain
9	chr17:66520400-66539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:66523200-66542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:66523600-66538800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:66525400-66538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:66526000-66539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:66526600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:66526800-66540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:66527600-66554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:66527800-66538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:66529800-66537400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:66530800-66539200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr17:66531200-66552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:66531400-66537400	Strong transcription	Brain Hippocampus Middle	brain
22	chr17:66531400-66538800	Strong transcription	Fetal Stomach	stomach
23	chr17:66531400-66539200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:66531400-66540000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:66531600-66537800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:66531600-66538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:66531800-66537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:66531800-66540000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:66532000-66537400	Strong transcription	NHLF	lung
30	chr17:66532000-66537800	Strong transcription	Gastric	stomach
31	chr17:66532200-66537800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:66532400-66537600	Weak transcription	Hela-S3	cervix
33	chr17:66532400-66538400	Weak transcription	HUVEC	blood vessel
34	chr17:66532400-66540200	Strong transcription	Osteobl	bone
35	chr17:66532600-66537400	Strong transcription	Fetal Intestine Small	intestine
36	chr17:66532600-66538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:66532600-66538200	Weak transcription	Fetal Brain Male	brain
38	chr17:66532800-66538400	Weak transcription	Brain Angular Gyrus	brain
39	chr17:66532800-66539600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:66533000-66538200	Strong transcription	Fetal Intestine Large	intestine
41	chr17:66533000-66555200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:66533200-66539200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr17:66533400-66537600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:66533400-66538400	Strong transcription	Adipose Nuclei	Adipose
45	chr17:66533600-66537600	Weak transcription	Dnd41	blood
46	chr17:66533600-66539000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:66533800-66545400	Weak transcription	Psoas Muscle	Psoas
48	chr17:66533800-66549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:66534000-66541400	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:66534000-66541800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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