Variant report

Variant	rs11750846
Chromosome Location	chr5:79395431-79395432
allele	A/G
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]
rs11738548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877496	0.85[ASN][1000 genomes]
rs62363993	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453502	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863009	0.86[ASN][1000 genomes]
rs6865426	0.97[EUR][1000 genomes]
rs7704169	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708735	0.98[EUR][1000 genomes]
rs7718534	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7722374	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735705	0.81[AMR][1000 genomes];0.81[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
2	chr5:79387400-79397000	Enhancers	Fetal Thymus	thymus
3	chr5:79388000-79405000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:79388600-79395600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:79389600-79398400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:79390000-79401200	Weak transcription	Pancreas	Pancrea
9	chr5:79390600-79405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:79390800-79402000	Weak transcription	Right Atrium	heart
11	chr5:79392400-79395800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:79393000-79395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:79393000-79396200	Enhancers	Fetal Brain Male	brain
14	chr5:79393400-79396600	Enhancers	Fetal Brain Female	brain
15	chr5:79393400-79397800	Weak transcription	Thymus	Thymus
16	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:79393600-79397600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:79393600-79399000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:79393800-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:79394000-79398000	Weak transcription	Fetal Heart	heart
21	chr5:79394600-79395600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:79394800-79395600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:79395000-79395800	Enhancers	HepG2	liver
24	chr5:79395200-79397800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:79395200-79398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:79395200-79399200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:79395200-79401800	Weak transcription	Fetal Muscle Leg	muscle

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