Variant report

Variant	rs9304573
Chromosome Location	chr19:38520946-38520947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12973690	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12977585	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12980972	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12980973	0.85[EUR][1000 genomes]
rs34417240	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34846275	0.83[EUR][1000 genomes]
rs35445607	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36106417	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58236040	0.94[ASN][1000 genomes]
rs6508757	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7508583	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8110656	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1060359	chr19:38512719-38552438	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
2	chr19:38495400-38526400	Weak transcription	Ovary	ovary
3	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:38501000-38521400	Weak transcription	Thymus	Thymus
7	chr19:38502400-38523000	Weak transcription	Liver	Liver
8	chr19:38503800-38523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:38506600-38526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:38510000-38524200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38512200-38521600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:38513800-38524000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:38514000-38521400	Weak transcription	Esophagus	oesophagus
15	chr19:38514200-38521400	Weak transcription	Gastric	stomach
16	chr19:38514200-38523200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr19:38514200-38523200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:38514200-38523600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:38514400-38524200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:38514600-38521400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:38514600-38521600	Weak transcription	NHLF	lung
22	chr19:38514600-38523800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:38514600-38524200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:38514600-38524200	Weak transcription	Right Atrium	heart
25	chr19:38514600-38530200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:38514800-38524000	Weak transcription	Adipose Nuclei	Adipose
27	chr19:38514800-38526400	Weak transcription	Left Ventricle	heart
28	chr19:38514800-38537000	Weak transcription	Colonic Mucosa	Colon
29	chr19:38515000-38521400	Weak transcription	HSMMtube	muscle
30	chr19:38515000-38522600	Weak transcription	Fetal Heart	heart
31	chr19:38515000-38523600	Weak transcription	Fetal Thymus	thymus
32	chr19:38515000-38524600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:38515000-38526600	Weak transcription	Right Ventricle	heart
34	chr19:38515200-38521400	Weak transcription	Fetal Muscle Leg	muscle
35	chr19:38515600-38524800	Weak transcription	Fetal Kidney	kidney
36	chr19:38515800-38521400	Weak transcription	Fetal Lung	lung
37	chr19:38515800-38523600	Weak transcription	Stomach Mucosa	stomach
38	chr19:38515800-38526000	Weak transcription	HepG2	liver
39	chr19:38516000-38524000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:38516000-38524200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:38516200-38521400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:38516200-38521400	Weak transcription	Brain Substantia Nigra	brain
43	chr19:38516200-38524000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:38516200-38524000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:38516200-38528000	Weak transcription	Fetal Brain Female	brain
46	chr19:38516400-38524400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:38516600-38521400	Strong transcription	A549	lung
48	chr19:38516800-38521400	Weak transcription	Fetal Brain Male	brain
49	chr19:38516800-38521400	Weak transcription	NH-A	brain
50	chr19:38516800-38524400	Weak transcription	Fetal Muscle Trunk	muscle

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