Variant report

Variant	rs16976816
Chromosome Location	chr19:44339377-44339378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16976817	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239940	1.00[JPT][hapmap]
rs346049	1.00[CHB][hapmap]
rs4525602	1.00[CHB][hapmap]
rs61634267	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73558538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73558560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73563529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104645	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:44332200-44340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:44332200-44341000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:44332400-44339400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:44332400-44339600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:44332400-44341000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:44332400-44343400	Weak transcription	Stomach Mucosa	stomach
8	chr19:44332600-44339400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:44332600-44340400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:44332600-44341000	Weak transcription	Hela-S3	cervix
11	chr19:44332600-44342400	Strong transcription	Placenta	Placenta
12	chr19:44332800-44339400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:44332800-44343000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:44332800-44343000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:44332800-44343400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
18	chr19:44333000-44339400	Strong transcription	Primary T cells from cord blood	blood
19	chr19:44333000-44342200	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:44333200-44342200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:44333600-44339400	Strong transcription	NHEK	skin
22	chr19:44333600-44340000	Strong transcription	NHDF-Ad	bronchial
23	chr19:44333600-44341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:44333800-44343800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr19:44334000-44339400	Strong transcription	Brain Substantia Nigra	brain
27	chr19:44334000-44347400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:44334200-44339400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:44334400-44339600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:44335200-44346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:44335400-44340600	Strong transcription	Left Ventricle	heart
35	chr19:44335400-44341200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:44335400-44346000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:44335600-44339400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr19:44336400-44342600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:44336400-44342600	Strong transcription	Right Ventricle	heart
42	chr19:44336600-44342000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:44336600-44342600	ZNF genes & repeats	Fetal Kidney	kidney
44	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:44336800-44340000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:44336800-44341000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:44336800-44342800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung

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