Variant report

Variant	rs7251009
Chromosome Location	chr19:44337060-44337061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44330375..44333089-chr19:44335779..44338741,4	MCF-7	breast:
2	chr19:44331507..44333052-chr19:44335407..44338345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167637	Chromatin interaction
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10407794	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12459186	0.84[EUR][1000 genomes]
rs189445	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2033492	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2195980	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239947	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34424221	0.81[ASN][1000 genomes]
rs349026	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs349027	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs349031	0.96[ASN][1000 genomes]
rs349035	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs349036	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs349037	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs349056	0.82[ASN][1000 genomes]
rs365785	0.80[ASN][1000 genomes]
rs443389	0.81[EUR][1000 genomes]
rs7258953	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][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	chr19:44332200-44338400	ZNF genes & repeats	A549	lung
4	chr19:44332200-44340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:44332200-44341000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44332400-44337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:44332400-44338000	Weak transcription	Primary B cells from cord blood	blood
8	chr19:44332400-44339200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:44332400-44339200	Weak transcription	Fetal Heart	heart
10	chr19:44332400-44339200	Weak transcription	Fetal Thymus	thymus
11	chr19:44332400-44339200	Weak transcription	NHLF	lung
12	chr19:44332400-44339400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:44332400-44339600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:44332400-44341000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:44332400-44343400	Weak transcription	Stomach Mucosa	stomach
16	chr19:44332600-44337400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:44332600-44337800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:44332600-44337800	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:44332600-44338000	Weak transcription	K562	blood
20	chr19:44332600-44339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:44332600-44339200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:44332600-44339200	Strong transcription	Osteobl	bone
23	chr19:44332600-44339400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:44332600-44340400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:44332600-44341000	Weak transcription	Hela-S3	cervix
26	chr19:44332600-44342400	Strong transcription	Placenta	Placenta
27	chr19:44332800-44338200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr19:44332800-44338200	Strong transcription	Rectal Smooth Muscle	rectum
29	chr19:44332800-44338400	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:44332800-44339200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:44332800-44339200	Strong transcription	Brain Anterior Caudate	brain
32	chr19:44332800-44339200	Strong transcription	Ovary	ovary
33	chr19:44332800-44339200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr19:44332800-44339200	Strong transcription	HMEC	breast
35	chr19:44332800-44339200	Strong transcription	HSMM	muscle
36	chr19:44332800-44339400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:44332800-44343000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:44332800-44343000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:44332800-44343400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
42	chr19:44333000-44339400	Strong transcription	Primary T cells from cord blood	blood
43	chr19:44333000-44342200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:44333200-44342200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr19:44333600-44338200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:44333600-44338200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr19:44333600-44339400	Strong transcription	NHEK	skin
48	chr19:44333600-44340000	Strong transcription	NHDF-Ad	bronchial
49	chr19:44333600-44341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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