Variant report

Variant	rs72732119
Chromosome Location	chr4:152786941-152786942
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	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs72732122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732126	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72732128	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72732134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2753949	chr4:152764038-152794700	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2757086	chr4:152776271-152809738	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759289	chr4:152776271-152809738	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv16590	chr4:152778545-152790136	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1030973	chr4:152779838-152792879	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72732119	RP11-461L13.3	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152779000-152788600	Weak transcription	Pancreas	Pancrea
2	chr4:152780800-152789000	Enhancers	Fetal Brain Male	brain
3	chr4:152781200-152794800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:152785200-152789400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:152785800-152788600	Enhancers	Fetal Thymus	thymus
6	chr4:152786000-152787000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:152786000-152787000	Enhancers	Dnd41	blood
8	chr4:152786000-152787200	Enhancers	Adipose Nuclei	Adipose
9	chr4:152786000-152788000	Enhancers	Fetal Heart	heart
10	chr4:152786000-152789000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:152786000-152789000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr4:152786200-152787600	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:152786200-152787800	Enhancers	Brain Anterior Caudate	brain
14	chr4:152786200-152787800	Enhancers	Left Ventricle	heart
15	chr4:152786200-152789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:152786400-152787200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:152786400-152787200	Enhancers	Fetal Muscle Trunk	muscle
18	chr4:152786400-152787400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:152786400-152787600	Enhancers	Colon Smooth Muscle	Colon
20	chr4:152786400-152788000	Enhancers	Primary B cells from cord blood	blood
21	chr4:152786400-152788000	Enhancers	Fetal Muscle Leg	muscle
22	chr4:152786400-152788600	Enhancers	Thymus	Thymus
23	chr4:152786400-152788800	Enhancers	Fetal Brain Female	brain
24	chr4:152786600-152787200	Enhancers	Brain Germinal Matrix	brain
25	chr4:152786600-152787400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:152786600-152787600	Enhancers	Right Ventricle	heart
27	chr4:152786600-152788400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:152786800-152787400	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:152786800-152787800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:152786800-152788000	Enhancers	HSMMtube	muscle

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