Variant report

Variant	rs3784380
Chromosome Location	chr15:83519371-83519372
allele	A/G
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	GATA1	chr15:83517931-83519373	K562	blood:	n/a	chr15:83518858-83518868
2	SMC3	chr15:83518203-83520477	SK-N-SH	brain:	n/a	chr15:83519746-83519760
3	CTCF	chr15:83518155-83520081	SK-N-SH	brain:	n/a	chr15:83519744-83519762 chr15:83519438-83519446
4	RAD21	chr15:83518188-83520217	SK-N-SH	brain:	n/a	chr15:83519745-83519758 chr15:83519858-83519867 chr15:83519742-83519761 chr15:83519744-83519756

No.	Distal block	Cell Line	Cell type
1	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
2	chr15:83517113..83521654-chr15:83652714..83657006,7	MCF-7	breast:
3	chr15:83516928..83520058-chr15:83678480..83682741,4	K562	blood:
4	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:

Variant related genes	Relation type
HOMER2	TF binding region
ENSG00000103942	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12591165	0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17158165	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83505800-83520800	Weak transcription	Dnd41	blood
3	chr15:83505800-83522400	Weak transcription	Fetal Kidney	kidney
4	chr15:83506000-83524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:83506200-83527400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:83507200-83539400	Weak transcription	Fetal Intestine Small	intestine
8	chr15:83507800-83521800	Weak transcription	Brain Germinal Matrix	brain
9	chr15:83513200-83532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:83514200-83521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:83514400-83542800	Weak transcription	Primary T cells from cord blood	blood
12	chr15:83516000-83523400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:83517000-83519400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
14	chr15:83517000-83519600	Enhancers	Fetal Muscle Leg	muscle
15	chr15:83517400-83519800	Genic enhancers	Pancreas	Pancrea
16	chr15:83517400-83520200	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:83517800-83519600	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:83517800-83522800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:83518000-83519600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:83518200-83519400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:83518200-83519400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:83518200-83519600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:83518200-83519600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:83518200-83519800	Enhancers	HSMM	muscle
25	chr15:83518200-83522600	Enhancers	Fetal Brain Female	brain
26	chr15:83518200-83523000	Enhancers	Fetal Thymus	thymus
27	chr15:83518400-83519400	Enhancers	NH-A	brain
28	chr15:83518400-83519600	Enhancers	Brain Substantia Nigra	brain
29	chr15:83518400-83522800	Enhancers	Fetal Brain Male	brain
30	chr15:83518600-83519400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:83518600-83519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:83518600-83519400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr15:83518600-83519600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:83518600-83519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:83518600-83519600	Enhancers	NHEK	skin
36	chr15:83518600-83519800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:83518600-83520000	Enhancers	Brain Hippocampus Middle	brain
38	chr15:83518600-83520000	Enhancers	Thymus	Thymus
39	chr15:83518600-83520000	Enhancers	Spleen	Spleen
40	chr15:83518600-83520200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:83518600-83520400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:83518600-83522400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:83518800-83519400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:83518800-83519400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr15:83518800-83519600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:83518800-83520000	Enhancers	Brain Cingulate Gyrus	brain
47	chr15:83518800-83520000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr15:83518800-83520200	Enhancers	Brain Angular Gyrus	brain
49	chr15:83518800-83520800	Weak transcription	Primary B cells from cord blood	blood
50	chr15:83518800-83521000	Enhancers	Cortex derived primary cultured neurospheres	brain

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