Variant report

Variant	rs12590789
Chromosome Location	chr14:70081029-70081030
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	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
2	chr14:70080315..70081958-chr14:70085435..70087455,2	K562	blood:

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

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

rs_ID	r²[population]
rs1109652	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12435686	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589913	0.98[ASN][1000 genomes]
rs12895185	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2152373	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2224541	0.98[ASN][1000 genomes]
rs4899308	0.98[ASN][1000 genomes]
rs8008410	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs875424	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079000-70082800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr14:70079000-70083200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr14:70079200-70083200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr14:70079200-70083400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:70079400-70083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:70079600-70082200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:70079600-70082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70079600-70085600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:70079800-70082000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:70079800-70082000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:70079800-70082600	Enhancers	Pancreas	Pancrea
13	chr14:70079800-70084200	Weak transcription	Ovary	ovary
14	chr14:70080000-70082600	Enhancers	Stomach Mucosa	stomach
15	chr14:70080000-70082800	Enhancers	Spleen	Spleen
16	chr14:70080000-70084200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
18	chr14:70080200-70081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70080200-70081600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:70080200-70081600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr14:70080200-70082000	Weak transcription	HSMM	muscle
22	chr14:70080200-70082400	Enhancers	Fetal Muscle Leg	muscle
23	chr14:70080400-70081200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:70080400-70082000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:70080400-70082000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:70080400-70082000	Weak transcription	Aorta	Aorta
27	chr14:70080400-70082000	Enhancers	Fetal Heart	heart
28	chr14:70080400-70082000	Weak transcription	Lung	lung
29	chr14:70080400-70082200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:70080400-70082200	Weak transcription	HSMMtube	muscle
31	chr14:70080400-70082600	Enhancers	HepG2	liver
32	chr14:70080400-70082800	Enhancers	Left Ventricle	heart
33	chr14:70080400-70083200	Enhancers	Placenta	Placenta
34	chr14:70080400-70083400	Enhancers	Fetal Intestine Large	intestine
35	chr14:70080400-70083800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr14:70080400-70084400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
38	chr14:70080600-70081200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr14:70080600-70081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:70080600-70081400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr14:70080600-70081400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:70080600-70081400	Enhancers	Psoas Muscle	Psoas
43	chr14:70080600-70081600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:70080600-70081600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:70080600-70081600	Weak transcription	Fetal Kidney	kidney
46	chr14:70080600-70081600	Weak transcription	NHDF-Ad	bronchial
47	chr14:70080600-70081800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:70080600-70081800	Enhancers	Right Atrium	heart
49	chr14:70080600-70081800	Weak transcription	NH-A	brain
50	chr14:70080600-70081800	Weak transcription	NHLF	lung

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