Variant report

Variant	rs17340358
Chromosome Location	chr7:106709102-106709103
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	GATA3	chr7:106708495-106709179	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr7:106708464-106709481	SK-N-SH	brain:	n/a	n/a
3	IRF1	chr7:106709099-106709324	K562	blood:	n/a	chr7:106709218-106709232 chr7:106709221-106709234 chr7:106709222-106709236 chr7:106709221-106709232 chr7:106709220-106709240 chr7:106709222-106709232 chr7:106709224-106709238 chr7:106709226-106709237 chr7:106709221-106709234

Variant related genes	Relation type
PRKAR2B	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1004570	0.96[EUR][1000 genomes]
rs10232542	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10241155	0.96[EUR][1000 genomes]
rs10248105	0.87[EUR][1000 genomes]
rs10249866	0.96[EUR][1000 genomes]
rs10261881	0.85[EUR][1000 genomes]
rs10271426	0.94[EUR][1000 genomes]
rs10272371	0.89[EUR][1000 genomes]
rs11509187	0.87[EUR][1000 genomes]
rs11760966	0.94[EUR][1000 genomes]
rs11762123	0.96[EUR][1000 genomes]
rs11764389	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11767753	0.94[EUR][1000 genomes]
rs11772066	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12055946	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12154324	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17153823	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17153861	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17340479	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17340577	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17341680	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17424512	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17425839	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1860804	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1860805	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2041525	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2041526	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191917	0.86[EUR][1000 genomes]
rs2237653	0.87[EUR][1000 genomes]
rs2250121	0.90[EUR][1000 genomes]
rs2536490	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28610544	0.87[EUR][1000 genomes]
rs28873708	0.93[EUR][1000 genomes]
rs3752645	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4460293	0.96[EUR][1000 genomes]
rs56704102	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58386564	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58979869	0.94[EUR][1000 genomes]
rs6960708	0.85[EUR][1000 genomes]
rs6971393	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6978486	0.85[EUR][1000 genomes]
rs7778076	0.94[EUR][1000 genomes]
rs7780728	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7780784	0.96[EUR][1000 genomes]
rs7780830	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7786296	0.86[EUR][1000 genomes]
rs7786692	0.96[EUR][1000 genomes]
rs8180787	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9641372	0.90[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106701000-106710000	Weak transcription	Right Ventricle	heart
2	chr7:106701600-106716000	Weak transcription	HUVEC	blood vessel
3	chr7:106703800-106711400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:106706400-106709400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:106706400-106709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:106706400-106710000	Weak transcription	Left Ventricle	heart
7	chr7:106706400-106710000	Weak transcription	Pancreas	Pancrea
8	chr7:106706400-106711800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:106706400-106718600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:106706400-106720000	Weak transcription	Spleen	Spleen
11	chr7:106706600-106710000	Weak transcription	Fetal Heart	heart
12	chr7:106706800-106719200	Weak transcription	Fetal Brain Male	brain
13	chr7:106707400-106710000	Enhancers	K562	blood
14	chr7:106707600-106709400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:106707800-106709200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:106707800-106709400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:106708000-106709200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:106708000-106710200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:106708200-106709200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:106708200-106709400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:106708600-106709400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:106708600-106709400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:106708600-106709400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:106708600-106709800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:106708600-106710000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:106708800-106709200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:106708800-106718600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:106709000-106709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:106709000-106709400	Active TSS	Right Atrium	heart
30	chr7:106709000-106709400	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:106709000-106709400	Weak transcription	NHLF	lung
32	chr7:106709000-106709600	Active TSS	Adipose Nuclei	Adipose

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