Variant report

Variant	rs72622927
Chromosome Location	chr3:46543397-46543398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46542684..46544753-chr3:46554640..46556935,2	K562	blood:
2	chr3:46539462..46541927-chr3:46542900..46546171,3	K562	blood:
3	chr3:46542254..46545139-chr3:46598522..46600340,2	K562	blood:
4	chr3:46539335..46541927-chr3:46542072..46545650,5	K562	blood:

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4683242	0.81[ASN][1000 genomes]
rs6442000	0.83[ASN][1000 genomes]
rs867619	0.83[ASN][1000 genomes]
rs883738	0.83[ASN][1000 genomes]
rs883740	0.83[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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46533000-46544200	Weak transcription	Psoas Muscle	Psoas
2	chr3:46537200-46546200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:46537200-46547000	Enhancers	Fetal Thymus	thymus
4	chr3:46537200-46550200	Enhancers	K562	blood
5	chr3:46538200-46546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:46538600-46544600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:46538800-46543800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:46538800-46544400	Weak transcription	Right Atrium	heart
9	chr3:46538800-46546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:46538800-46546800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:46539000-46547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:46539200-46547600	Weak transcription	Spleen	Spleen
13	chr3:46539800-46545400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:46540000-46544200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:46540800-46543800	Enhancers	Primary T cells from cord blood	blood
16	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
17	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
18	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
19	chr3:46541600-46543400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:46541600-46543600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:46541600-46543800	Enhancers	NH-A	brain
22	chr3:46541600-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:46541600-46545600	Enhancers	Fetal Muscle Leg	muscle
24	chr3:46541600-46545600	Enhancers	HSMM	muscle
25	chr3:46542000-46543600	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:46542000-46543600	Enhancers	NHDF-Ad	bronchial
27	chr3:46542000-46544000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:46542000-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:46542000-46545600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:46542000-46547000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:46542200-46543400	Enhancers	Primary B cells from cord blood	blood
32	chr3:46542200-46543600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:46542200-46544600	Weak transcription	NHLF	lung
34	chr3:46542200-46545200	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:46542200-46545600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:46542200-46545800	Enhancers	HSMMtube	muscle
37	chr3:46542800-46543600	Enhancers	Osteobl	bone
38	chr3:46542800-46544400	Weak transcription	Dnd41	blood
39	chr3:46543000-46543400	Enhancers	Adipose Nuclei	Adipose
40	chr3:46543000-46544800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:46543200-46543400	Genic enhancers	Liver	Liver
42	chr3:46543200-46543400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:46543200-46543400	Enhancers	Placenta	Placenta
44	chr3:46543200-46543600	Enhancers	Fetal Lung	lung
45	chr3:46543200-46544400	Enhancers	GM12878-XiMat	blood
46	chr3:46543200-46544600	Weak transcription	Thymus	Thymus
47	chr3:46543200-46545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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