Variant report

Variant	rs16976897
Chromosome Location	chr19:44426561-44426562
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16976863	0.82[YRI][hapmap]
rs16976868	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17449078	0.82[YRI][hapmap]
rs2191562	0.90[YRI][hapmap]
rs2191563	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs57500373	0.81[AFR][1000 genomes]
rs7260473	0.81[AFR][1000 genomes]
rs766959	0.82[YRI][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	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
2	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
3	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
2	chr19:44406800-44427400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44407400-44427600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44415600-44426800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
7	chr19:44416200-44427400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:44416600-44429400	ZNF genes & repeats	A549	lung
9	chr19:44416800-44427400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:44417000-44429600	ZNF genes & repeats	GM12878-XiMat	blood
11	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44417200-44426800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr19:44417400-44426600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:44417400-44427800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:44417600-44426800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:44418400-44432600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:44418600-44431600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:44418600-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:44418800-44431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:44419400-44431600	Strong transcription	Right Ventricle	heart
21	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr19:44420000-44435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:44420000-44437200	Strong transcription	Placenta	Placenta
24	chr19:44420000-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:44420000-44437800	Strong transcription	HSMM	muscle
26	chr19:44420200-44428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:44420200-44437200	Strong transcription	HSMMtube	muscle
28	chr19:44420200-44437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:44420400-44426800	Strong transcription	NHDF-Ad	bronchial
30	chr19:44420400-44437400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:44420600-44437000	Strong transcription	Dnd41	blood
33	chr19:44420600-44437200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:44420600-44437200	Strong transcription	Fetal Thymus	thymus
35	chr19:44420600-44437400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44420600-44437600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:44420800-44436200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:44420800-44437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:44421000-44428400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:44421000-44429800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr19:44421000-44431600	Strong transcription	Osteobl	bone
42	chr19:44421000-44431800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr19:44421000-44437000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:44421000-44437000	Strong transcription	Brain Anterior Caudate	brain
45	chr19:44421000-44437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:44421000-44437400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:44421200-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:44421400-44427200	Strong transcription	Colonic Mucosa	Colon

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