Variant report

Variant	rs395143
Chromosome Location	chr19:44461490-44461491
allele	C/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	SPI1	chr19:44460818-44461523	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZNF221	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs365769	0.87[AMR][1000 genomes]
rs367056	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs367241	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs379722	0.87[AMR][1000 genomes]
rs384432	0.87[AMR][1000 genomes]
rs393117	0.81[AFR][1000 genomes]
rs393403	0.89[AFR][1000 genomes]
rs393473	0.89[AFR][1000 genomes]
rs424364	0.87[AMR][1000 genomes]
rs441225	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs442934	0.81[AFR][1000 genomes]
rs446072	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs452143	0.87[AMR][1000 genomes]
rs453611	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]

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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
5	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
12	chr19:44456600-44461600	Weak transcription	NHLF	lung
13	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:44456600-44461800	Weak transcription	HepG2	liver
15	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
16	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44456800-44461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
21	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:44457000-44463400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:44459600-44461800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44459600-44462600	Weak transcription	Colonic Mucosa	Colon
25	chr19:44459600-44464200	Weak transcription	Brain Angular Gyrus	brain
26	chr19:44459800-44461600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:44459800-44461600	Weak transcription	Gastric	stomach
28	chr19:44459800-44462200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:44459800-44462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:44459800-44462400	Weak transcription	Fetal Stomach	stomach
31	chr19:44459800-44463400	Weak transcription	Right Ventricle	heart
32	chr19:44460000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44460000-44462200	Weak transcription	Fetal Brain Male	brain
34	chr19:44460000-44462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44460000-44467400	Weak transcription	HSMM	muscle
36	chr19:44460200-44462000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:44460400-44462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:44461000-44462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:44461200-44462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:44461400-44465600	ZNF genes & repeats	Ovary	ovary

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