Variant report

Variant	rs17449078
Chromosome Location	chr19:44383298-44383299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1124737	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976863	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976889	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976897	0.82[YRI][hapmap]
rs2191562	0.91[YRI][hapmap]
rs2191563	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs56870791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57500373	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59935787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60582855	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61022716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61277064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61528694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6509121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs766959	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8103693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8106317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108832	1.00[AFR][1000 genomes];1.00[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	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv961294	chr19:44359970-44384503	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44382600-44383600	ZNF genes & repeats	Brain Hippocampus Middle	brain
2	chr19:44382600-44383600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr19:44382600-44383800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:44382600-44383800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr19:44382600-44384000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr19:44382600-44384200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
7	chr19:44382600-44384400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:44382600-44384400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:44382600-44385000	ZNF genes & repeats	HSMMtube	muscle
10	chr19:44382600-44385400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:44382600-44385400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
12	chr19:44382600-44385600	ZNF genes & repeats	Fetal Lung	lung
13	chr19:44382600-44385600	ZNF genes & repeats	Ovary	ovary
14	chr19:44382600-44386000	ZNF genes & repeats	Brain Angular Gyrus	brain
15	chr19:44382600-44386400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:44382600-44386600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:44382600-44386600	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr19:44382600-44388600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44382600-44389200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:44382600-44390400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:44382600-44390600	ZNF genes & repeats	Liver	Liver
22	chr19:44382600-44390800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:44382800-44383600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:44382800-44383600	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:44382800-44383800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:44382800-44384200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr19:44382800-44384400	ZNF genes & repeats	Fetal Brain Female	brain
28	chr19:44382800-44385200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:44382800-44385200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:44382800-44385400	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:44383000-44384200	Strong transcription	Left Ventricle	heart
32	chr19:44383000-44385600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:44383000-44405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:44383200-44387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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