Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:106730575-106732348	Raji	blood:	n/a	n/a
2	POLR2A	chr7:106731891-106731972	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
PRKAR2B	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10281856	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11760261	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12705403	0.81[CHD][hapmap]
rs12705404	0.90[GIH][hapmap];0.82[MEX][hapmap]
rs13311274	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860803	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2251838	0.83[GIH][hapmap]
rs2302453	0.83[CHD][hapmap]
rs2536501	0.83[GIH][hapmap]
rs2707373	0.86[AFR][1000 genomes]
rs2707374	0.86[AFR][1000 genomes]
rs28362525	0.82[AFR][1000 genomes]
rs3735613	0.81[CHD][hapmap]
rs3801968	0.89[ASN][1000 genomes]
rs6466159	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6955387	0.99[ASN][1000 genomes]
rs717099	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7800621	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809330	0.83[CHD][hapmap]
rs9656135	0.82[AFR][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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6466156	C4orf49	trans	parietal	SCAN
rs6466156	GPR22	cis	cerebellum	SCAN
rs6466156	PSMC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106719400-106734200	Weak transcription	Brain Anterior Caudate	brain
2	chr7:106730200-106732000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:106730200-106732200	Enhancers	Adipose Nuclei	Adipose
4	chr7:106730400-106732000	Enhancers	Right Atrium	heart
5	chr7:106730400-106732200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:106730400-106732200	Enhancers	HUVEC	blood vessel
7	chr7:106730400-106732800	Enhancers	Fetal Brain Male	brain
8	chr7:106730600-106732200	Enhancers	Left Ventricle	heart
9	chr7:106730600-106732400	Enhancers	Fetal Brain Female	brain
10	chr7:106731200-106732000	Weak transcription	Fetal Heart	heart
11	chr7:106731400-106732000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:106731600-106732000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:106731600-106732000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:106731600-106732000	Enhancers	K562	blood
15	chr7:106731600-106732200	Enhancers	Spleen	Spleen
16	chr7:106731600-106733200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

Quick Search: