Variant report

Variant	rs72965541
Chromosome Location	chr4:151044922-151044923
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	chr4:151043515..151045552-chr4:151046673..151048620,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12645121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835173	0.80[ASN][1000 genomes]
rs4835174	0.80[ASN][1000 genomes]
rs58937532	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60275576	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66539203	0.84[ASN][1000 genomes]
rs68167852	0.84[ASN][1000 genomes]
rs72965543	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965554	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965555	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72965566	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151037400-151048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:151038200-151051600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:151038800-151070000	Weak transcription	Ovary	ovary
4	chr4:151039000-151048000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:151039000-151048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:151039000-151052800	Weak transcription	Right Ventricle	heart
7	chr4:151039400-151047200	Weak transcription	NHLF	lung
8	chr4:151041000-151046600	Weak transcription	Fetal Heart	heart
9	chr4:151041400-151045400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr4:151041600-151047200	Weak transcription	NH-A	brain
11	chr4:151041600-151047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:151041800-151047200	Weak transcription	HSMMtube	muscle
13	chr4:151041800-151047200	Weak transcription	NHDF-Ad	bronchial
14	chr4:151043000-151047200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:151043200-151048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:151043200-151052200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:151043400-151051600	Weak transcription	Brain Substantia Nigra	brain
18	chr4:151043600-151047800	Weak transcription	Fetal Lung	lung
19	chr4:151043800-151047200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:151044200-151045200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:151044200-151047200	Weak transcription	HSMM	muscle
22	chr4:151044200-151047200	Weak transcription	Osteobl	bone
23	chr4:151044200-151052800	Weak transcription	Brain Germinal Matrix	brain
24	chr4:151044400-151045800	Enhancers	GM12878-XiMat	blood
25	chr4:151044400-151047200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:151044600-151049400	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:151044800-151045000	Flanking Active TSS	A549	lung
28	chr4:151044800-151045200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:151044800-151045200	Enhancers	Fetal Brain Male	brain
30	chr4:151044800-151049000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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