Variant report

Variant	rs7258717
Chromosome Location	chr19:44338878-44338879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16976829	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16976868	0.90[AMR][1000 genomes]
rs1906230	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248374	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8107342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	chr19:44332000-44339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44332200-44340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44332200-44341000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:44332400-44339200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:44332400-44339200	Weak transcription	Fetal Heart	heart
7	chr19:44332400-44339200	Weak transcription	Fetal Thymus	thymus
8	chr19:44332400-44339200	Weak transcription	NHLF	lung
9	chr19:44332400-44339400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:44332400-44339600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:44332400-44341000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:44332400-44343400	Weak transcription	Stomach Mucosa	stomach
13	chr19:44332600-44339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:44332600-44339200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:44332600-44339200	Strong transcription	Osteobl	bone
16	chr19:44332600-44339400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:44332600-44340400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44332600-44341000	Weak transcription	Hela-S3	cervix
19	chr19:44332600-44342400	Strong transcription	Placenta	Placenta
20	chr19:44332800-44339200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:44332800-44339200	Strong transcription	Brain Anterior Caudate	brain
22	chr19:44332800-44339200	Strong transcription	Ovary	ovary
23	chr19:44332800-44339200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:44332800-44339200	Strong transcription	HMEC	breast
25	chr19:44332800-44339200	Strong transcription	HSMM	muscle
26	chr19:44332800-44339400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44332800-44343000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:44332800-44343000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:44332800-44343400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
32	chr19:44333000-44339400	Strong transcription	Primary T cells from cord blood	blood
33	chr19:44333000-44342200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:44333200-44342200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr19:44333600-44339400	Strong transcription	NHEK	skin
36	chr19:44333600-44340000	Strong transcription	NHDF-Ad	bronchial
37	chr19:44333600-44341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:44333800-44343800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr19:44334000-44339400	Strong transcription	Brain Substantia Nigra	brain
41	chr19:44334000-44347400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:44334200-44339400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:44334400-44339600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:44334600-44339200	Strong transcription	Fetal Stomach	stomach
46	chr19:44335200-44346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:44335400-44340600	Strong transcription	Left Ventricle	heart
50	chr19:44335400-44341200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links