Variant report

Variant	rs564936133
Chromosome Location	chr15:45750887-45750888
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr15:45750741-45751328	K562	blood:	n/a	chr15:45751097-45751108 chr15:45751095-45751109 chr15:45751094-45751114 chr15:45751096-45751107 chr15:45751050-45751063 chr15:45751100-45751113 chr15:45751095-45751108 chr15:45751049-45751066 chr15:45751096-45751110 chr15:45751100-45751113 chr15:45751095-45751112 chr15:45751095-45751109 chr15:45751094-45751108 chr15:45751098-45751108
2	CTCF	chr15:45749661-45751354	GM12878	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
3	CTCF	chr15:45749410-45751350	IMR90	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
4	SMC3	chr15:45748640-45751360	Hela-S3	cervix:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
5	SMC3	chr15:45749683-45751577	GM12878	blood:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
6	CTCF	chr15:45750879-45751467	HCT-116	colon:	n/a	chr15:45751149-45751167 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45751154-45751162
7	CTCF	chr15:45748610-45751517	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
8	CTCF	chr15:45748705-45751467	HCT-116	colon:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
9	RAD21	chr15:45749321-45751638	SK-N-SH	brain:	n/a	chr15:45751154-45751163 chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320 chr15:45751152-45751159
10	BRCA1	chr15:45750885-45751313	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr15:45750622-45750945	HepG2	liver:	n/a	n/a
12	IRF1	chr15:45749747-45751340	K562	blood:	n/a	chr15:45751097-45751108 chr15:45751095-45751109 chr15:45751094-45751114 chr15:45751096-45751107 chr15:45751050-45751063 chr15:45751100-45751113 chr15:45751095-45751108 chr15:45751049-45751066 chr15:45751096-45751110 chr15:45751100-45751113 chr15:45751095-45751112 chr15:45751095-45751109 chr15:45751094-45751108 chr15:45751098-45751108
13	CTCF	chr15:45749498-45751911	SK-N-SH	brain:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
14	ARID3A	chr15:45749769-45751332	K562	blood:	n/a	n/a
15	RAD21	chr15:45749602-45751363	Hela-S3	cervix:	n/a	chr15:45751154-45751163 chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320 chr15:45751152-45751159
16	SMC3	chr15:45749425-45750932	SK-N-SH	brain:	n/a	chr15:45749923-45749937 chr15:45750312-45750326

No.	Distal block	Cell Line	Cell type
1	chr15:45750656..45751581-chr15:45813573..45814784,3	K562	blood:
2	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
3	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
4	chr15:45750236..45753171-chr15:45878645..45880450,2	MCF-7	breast:
5	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:
6	chr15:45750690..45751653-chr15:45878681..45879387,2	Hela-S3	cervix:
7	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000179362	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000166920	Chromatin interaction
ENSG00000104154	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45749000-45751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:45749200-45751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr15:45749200-45751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:45749200-45753200	Weak transcription	Gastric	stomach
5	chr15:45749400-45751600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:45749400-45753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:45749400-45753200	Weak transcription	Esophagus	oesophagus
8	chr15:45749400-45753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:45749800-45751200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr15:45749800-45751200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr15:45749800-45751200	Active TSS	Ovary	ovary
12	chr15:45749800-45751200	Active TSS	Rectal Smooth Muscle	rectum
13	chr15:45749800-45751200	Active TSS	Thymus	Thymus
14	chr15:45749800-45751200	Flanking Active TSS	Dnd41	blood
15	chr15:45749800-45751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:45749800-45751400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr15:45749800-45751400	Active TSS	Brain Anterior Caudate	brain
18	chr15:45749800-45751400	Active TSS	Brain Hippocampus Middle	brain
19	chr15:45749800-45751400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:45749800-45751400	Active TSS	Fetal Kidney	kidney
21	chr15:45749800-45751400	Active TSS	Stomach Smooth Muscle	stomach
22	chr15:45749800-45751600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:45749800-45751600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:45749800-45751600	Active TSS	Right Atrium	heart
25	chr15:45749800-45751600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:45749800-45753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:45750000-45751000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:45750000-45751000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr15:45750000-45751000	Active TSS	Fetal Brain Male	brain
30	chr15:45750000-45751000	Flanking Active TSS	NHEK	skin
31	chr15:45750000-45751000	Flanking Active TSS	Osteobl	bone
32	chr15:45750000-45751200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr15:45750000-45751200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:45750000-45751200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:45750000-45751200	Active TSS	Aorta	Aorta
36	chr15:45750000-45751200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45750000-45751200	Active TSS	Colonic Mucosa	Colon
38	chr15:45750000-45751200	Active TSS	Colon Smooth Muscle	Colon
39	chr15:45750000-45751200	Active TSS	Fetal Intestine Large	intestine
40	chr15:45750000-45751200	Active TSS	Fetal Muscle Leg	muscle
41	chr15:45750000-45751200	Active TSS	Fetal Thymus	thymus
42	chr15:45750000-45751200	Active TSS	Psoas Muscle	Psoas
43	chr15:45750000-45751200	Active TSS	Right Ventricle	heart
44	chr15:45750000-45751200	Active TSS	HepG2	liver
45	chr15:45750000-45751400	Active TSS	Brain Angular Gyrus	brain
46	chr15:45750000-45751400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr15:45750000-45751400	Active TSS	Fetal Lung	lung
48	chr15:45750000-45751400	Active TSS	Fetal Muscle Trunk	muscle
49	chr15:45750000-45751400	Active TSS	NHDF-Ad	bronchial
50	chr15:45750000-45751600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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