Variant report

Variant	rs73572006
Chromosome Location	chr19:45303334-45303335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45296163..45298803-chr19:45301824..45303970,2	K562	blood:
2	chr19:45297988..45303860-chr19:45347133..45351877,8	MCF-7	breast:
3	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction

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

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

rs_ID	r²[population]
rs10408993	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1075643	0.94[EUR][1000 genomes]
rs28534944	0.91[EUR][1000 genomes]
rs2927478	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2927479	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965161	0.96[EUR][1000 genomes]
rs2967671	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3810140	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3810141	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249750	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73572003	0.89[ASN][1000 genomes]
rs8113171	0.95[AMR][1000 genomes];0.96[EUR][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	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45303400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:45285200-45304000	Strong transcription	NHEK	skin
6	chr19:45290600-45303400	Strong transcription	Fetal Intestine Large	intestine
7	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
8	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
9	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:45297000-45307200	Weak transcription	Lung	lung
11	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:45297600-45303600	Weak transcription	Fetal Stomach	stomach
13	chr19:45298200-45310200	Weak transcription	Gastric	stomach
14	chr19:45299200-45303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:45299200-45303400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:45300400-45303400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:45300400-45303600	Weak transcription	Left Ventricle	heart
20	chr19:45300400-45304000	Enhancers	A549	lung
21	chr19:45300600-45303400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:45300600-45303400	Weak transcription	Primary B cells from cord blood	blood
23	chr19:45300600-45303400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:45300600-45303400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:45300600-45303400	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:45300600-45303400	Weak transcription	Fetal Thymus	thymus
27	chr19:45300600-45303600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:45300600-45303600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:45300600-45303600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:45300600-45303600	Weak transcription	Adipose Nuclei	Adipose
31	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
32	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
33	chr19:45300800-45303600	Weak transcription	Fetal Heart	heart
34	chr19:45301000-45303400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:45301200-45303800	Strong transcription	Esophagus	oesophagus
36	chr19:45301400-45303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:45301400-45303600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:45301400-45303600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:45301600-45303400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:45301800-45303800	Enhancers	GM12878-XiMat	blood
41	chr19:45302000-45304000	Enhancers	Placenta	Placenta
42	chr19:45302000-45304200	Enhancers	Fetal Muscle Trunk	muscle
43	chr19:45302400-45304000	Enhancers	Liver	Liver
44	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:45303000-45303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:45303000-45304000	Flanking Active TSS	HepG2	liver
47	chr19:45303200-45303400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr19:45303200-45303400	Genic enhancers	HMEC	breast
49	chr19:45303200-45303800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr19:45303200-45303800	Enhancers	H1 Cell Line	embryonic stem cell

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