Variant report

Variant	rs62121443
Chromosome Location	chr19:38652963-38652964
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	FOS	chr19:38652759-38653010	MCF10A-Er-Src	breast:	n/a	chr19:38652848-38652858 chr19:38652849-38652857
2	FOS	chr19:38652732-38653004	MCF10A-Er-Src	breast:	n/a	chr19:38652848-38652858 chr19:38652849-38652857
3	MYC	chr19:38652778-38653038	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr19:38652689-38652986	MCF10A-Er-Src	breast:	n/a	chr19:38652848-38652858 chr19:38652849-38652857
5	MYC	chr19:38652705-38653090	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr19:38652871-38653998	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38651349..38653210-chr19:38716095..38718461,2	K562	blood:
2	chr19:38651241..38653210-chr19:38716095..38718461,3	K562	blood:

Variant related genes	Relation type
SIPA1L3	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62121382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
2	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
3	chr19:38633400-38653000	Weak transcription	Fetal Brain Male	brain
4	chr19:38638200-38667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:38643800-38654800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:38644000-38659200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:38645600-38660800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:38646000-38661000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:38647400-38653000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:38647600-38653000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr19:38647800-38653000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:38647800-38653000	Strong transcription	Pancreas	Pancrea
13	chr19:38647800-38653000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:38647800-38653000	Strong transcription	Osteobl	bone
15	chr19:38650600-38653000	Weak transcription	HSMMtube	muscle
16	chr19:38650800-38653800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:38651200-38653200	Strong transcription	Right Ventricle	heart
18	chr19:38651200-38653800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:38651200-38654000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:38651400-38653800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr19:38651400-38658400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:38652000-38653000	Strong transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:38652000-38653800	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:38652000-38654000	ZNF genes & repeats	Fetal Stomach	stomach
25	chr19:38652200-38653000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:38652200-38653600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:38652200-38653600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:38652200-38653600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr19:38652200-38653800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:38652200-38653800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:38652200-38653800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr19:38652200-38653800	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr19:38652200-38653800	ZNF genes & repeats	A549	lung
34	chr19:38652200-38653800	ZNF genes & repeats	Dnd41	blood
35	chr19:38652400-38653000	Enhancers	HMEC	breast
36	chr19:38652400-38653200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:38652400-38653200	Enhancers	NHEK	skin
38	chr19:38652400-38653400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr19:38652400-38653600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:38652400-38653600	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr19:38652400-38653600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr19:38652400-38653600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:38652400-38653600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr19:38652400-38653600	Strong transcription	Fetal Heart	heart
45	chr19:38652400-38653800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr19:38652400-38653800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr19:38652400-38653800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:38652400-38653800	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:38652400-38653800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr19:38652400-38653800	ZNF genes & repeats	Fetal Thymus	thymus

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