Variant report

Variant	rs72965555
Chromosome Location	chr4:151049162-151049163
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12645121	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835173	0.84[ASN][1000 genomes]
rs4835174	0.84[ASN][1000 genomes]
rs4835618	0.80[ASN][1000 genomes]
rs58937532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60275576	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66539203	0.80[ASN][1000 genomes]
rs67935571	0.82[ASN][1000 genomes]
rs68167852	0.80[ASN][1000 genomes]
rs72965541	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72965543	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72965554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72965566	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3367011	chr4:151049031-151053489	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	esv3467428	chr4:151049063-151053482	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	esv3467429	chr4:151049063-151053482	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038200-151051600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:151038800-151070000	Weak transcription	Ovary	ovary
3	chr4:151039000-151052800	Weak transcription	Right Ventricle	heart
4	chr4:151043200-151052200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:151043400-151051600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:151044200-151052800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:151044600-151049400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:151045400-151052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:151047200-151049600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:151047200-151049600	Enhancers	NHDF-Ad	bronchial
12	chr4:151047200-151049800	Enhancers	NHLF	lung
13	chr4:151047200-151050000	Enhancers	HSMMtube	muscle
14	chr4:151047200-151050200	Enhancers	HSMM	muscle
15	chr4:151047200-151050400	Enhancers	Osteobl	bone
16	chr4:151047400-151049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:151047400-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:151047400-151049400	Enhancers	NHEK	skin
19	chr4:151047400-151058200	Weak transcription	Left Ventricle	heart
20	chr4:151047600-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:151047800-151049200	Enhancers	HMEC	breast
22	chr4:151047800-151051600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:151048000-151049200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:151048000-151050400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:151048200-151049400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:151048200-151049600	Weak transcription	Fetal Heart	heart
27	chr4:151048200-151050400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:151048200-151050400	Enhancers	NH-A	brain
29	chr4:151048200-151050600	Enhancers	A549	lung
30	chr4:151048200-151051800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:151048400-151049200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151048400-151049200	Enhancers	Primary B cells from cord blood	blood
33	chr4:151048400-151051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:151048400-151057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:151048600-151049600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:151048600-151049600	Enhancers	Brain Anterior Caudate	brain
37	chr4:151048800-151049200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:151048800-151049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:151049000-151049400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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