Variant report

Variant	rs7725944
Chromosome Location	chr5:79392732-79392733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79392080..79394913-chr5:79395213..79397071,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10462572	0.82[EUR][1000 genomes]
rs12110039	0.81[EUR][1000 genomes]
rs12186362	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12188015	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12523107	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12523112	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17882279	0.86[EUR][1000 genomes]
rs2118732	0.84[EUR][1000 genomes]
rs62363982	0.81[EUR][1000 genomes]
rs6453500	0.80[EUR][1000 genomes]
rs6453501	0.80[EUR][1000 genomes]
rs7736549	0.87[EUR][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79379400-79393200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
3	chr5:79382000-79393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:79385800-79393000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:79387400-79397000	Enhancers	Fetal Thymus	thymus
6	chr5:79388000-79405000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:79388400-79393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:79388600-79395600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:79388800-79393000	Weak transcription	Thymus	Thymus
10	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:79389600-79398400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:79389800-79393200	Weak transcription	Primary T cells from cord blood	blood
13	chr5:79389800-79393400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:79390000-79393000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:79390000-79393000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:79390000-79401200	Weak transcription	Pancreas	Pancrea
18	chr5:79390200-79393000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:79390200-79393000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:79390200-79393200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:79390200-79393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:79390400-79393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:79390400-79393000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:79390400-79393000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:79390400-79393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:79390600-79393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:79390600-79405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:79390800-79393000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:79390800-79393200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:79390800-79402000	Weak transcription	Right Atrium	heart
31	chr5:79391400-79393200	Weak transcription	Fetal Heart	heart
32	chr5:79392000-79392800	Enhancers	HepG2	liver
33	chr5:79392400-79393200	Enhancers	Placenta	Placenta
34	chr5:79392400-79395800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:79392600-79393000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:79392600-79393200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:79392600-79395000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:79392600-79395200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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