Variant report

Variant	rs59568150
Chromosome Location	chr3:46544960-46544961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10490771	0.85[AMR][1000 genomes]
rs11574432	0.85[AMR][1000 genomes]
rs11574438	0.85[AMR][1000 genomes]
rs11574444	0.85[AMR][1000 genomes]
rs11575823	0.85[AMR][1000 genomes]
rs1607738	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078868	0.85[AMR][1000 genomes]
rs17078932	1.00[AMR][1000 genomes]
rs17078949	1.00[AMR][1000 genomes]
rs17141109	0.85[AMR][1000 genomes]
rs17141112	0.85[AMR][1000 genomes]
rs28584272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918378	0.85[AMR][1000 genomes]
rs3918383	0.85[AMR][1000 genomes]
rs3918386	0.85[AMR][1000 genomes]
rs41469351	0.85[AMR][1000 genomes]
rs41475349	0.85[AMR][1000 genomes]
rs41499550	0.85[AMR][1000 genomes]
rs57571354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58889017	0.85[AMR][1000 genomes]
rs58970771	1.00[AMR][1000 genomes]
rs60700685	1.00[AMR][1000 genomes]
rs60938611	0.85[AMR][1000 genomes]
rs61151866	1.00[AMR][1000 genomes]
rs61389423	1.00[AMR][1000 genomes]
rs61550542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740461	1.00[AMR][1000 genomes]
rs72900271	1.00[AMR][1000 genomes]
rs72900273	1.00[AMR][1000 genomes]
rs72900285	1.00[AMR][1000 genomes]
rs72900287	0.85[AMR][1000 genomes]
rs72900298	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902152	1.00[AMR][1000 genomes]
rs9856096	0.85[AMR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46537200-46546200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:46537200-46547000	Enhancers	Fetal Thymus	thymus
3	chr3:46537200-46550200	Enhancers	K562	blood
4	chr3:46538200-46546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:46538800-46546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:46538800-46546800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:46539000-46547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:46539200-46547600	Weak transcription	Spleen	Spleen
9	chr3:46539800-46545400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
11	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
12	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
13	chr3:46541600-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:46541600-46545600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:46541600-46545600	Enhancers	HSMM	muscle
16	chr3:46542000-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:46542000-46545600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:46542000-46547000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:46542200-46545200	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:46542200-46545600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:46542200-46545800	Enhancers	HSMMtube	muscle
22	chr3:46543200-46545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:46543400-46545000	Enhancers	Liver	Liver
24	chr3:46543400-46547400	Weak transcription	Primary B cells from cord blood	blood
25	chr3:46543600-46545000	Weak transcription	NHDF-Ad	bronchial
26	chr3:46543600-46545200	Weak transcription	Osteobl	bone
27	chr3:46544000-46545600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:46544000-46545600	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:46544200-46545600	Enhancers	Primary T cells from cord blood	blood
30	chr3:46544400-46545000	Enhancers	Placenta	Placenta
31	chr3:46544400-46545600	Enhancers	Dnd41	blood
32	chr3:46544400-46545600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr3:46544600-46545200	Enhancers	NHLF	lung
34	chr3:46544600-46545600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:46544800-46545000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:46544800-46545000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:46544800-46545000	Bivalent Enhancer	Thymus	Thymus
38	chr3:46544800-46545200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:46544800-46545400	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:46544800-46545400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:46544800-46556000	Weak transcription	Psoas Muscle	Psoas
42	chr3:46544800-46599400	Weak transcription	Right Atrium	heart

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