Variant report

Variant	rs45618138
Chromosome Location	chr19:42858668-42858669
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42858212..42860200-chr19:42868262..42870345,2	K562	blood:
2	chr19:42853692..42856460-chr19:42858026..42859933,2	K562	blood:
3	chr19:42858117..42860786-chr19:42875381..42877295,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11878811	1.00[AMR][1000 genomes]
rs11878959	1.00[AMR][1000 genomes]
rs11878991	1.00[EUR][1000 genomes]
rs11879456	1.00[EUR][1000 genomes]
rs11882606	1.00[AMR][1000 genomes]
rs11883099	1.00[AMR][1000 genomes]
rs11883406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883425	1.00[EUR][1000 genomes]
rs1975178	1.00[EUR][1000 genomes]
rs35260629	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36024215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41363350	1.00[EUR][1000 genomes]
rs45439592	1.00[EUR][1000 genomes]
rs45459094	1.00[EUR][1000 genomes]
rs45463194	1.00[EUR][1000 genomes]
rs45482593	1.00[EUR][1000 genomes]
rs45542141	1.00[EUR][1000 genomes]
rs45551231	1.00[EUR][1000 genomes]
rs45583435	1.00[EUR][1000 genomes]
rs45617042	1.00[EUR][1000 genomes]
rs45620339	1.00[EUR][1000 genomes]
rs61739430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246161	1.00[EUR][1000 genomes]
rs7246227	1.00[EUR][1000 genomes]
rs7246591	1.00[EUR][1000 genomes]
rs9676326	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
3	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
4	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:42831000-42874400	Weak transcription	HSMM	muscle
7	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
8	chr19:42831400-42867400	Weak transcription	NHEK	skin
9	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:42831800-42874800	Weak transcription	K562	blood
13	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
14	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
15	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
16	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:42841000-42867600	Weak transcription	Osteobl	bone
18	chr19:42841200-42859600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:42841400-42859800	Weak transcription	NHLF	lung
20	chr19:42841400-42861000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr19:42841400-42865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:42841600-42860200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:42841600-42860400	Weak transcription	A549	lung
24	chr19:42841600-42867800	Weak transcription	HepG2	liver
25	chr19:42841800-42860600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:42843400-42867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:42844000-42861800	Strong transcription	Fetal Intestine Small	intestine
28	chr19:42844000-42867200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr19:42844800-42877400	Weak transcription	Stomach Mucosa	stomach
30	chr19:42849800-42867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:42850600-42859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:42851000-42863600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:42851600-42860400	Weak transcription	Primary B cells from cord blood	blood
34	chr19:42851600-42862000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:42852000-42862800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:42852000-42863600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:42852000-42864000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:42852000-42868000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:42852000-42868600	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:42852200-42863200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:42852200-42864000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:42852200-42867400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:42852200-42867800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:42852200-42867800	Strong transcription	Right Ventricle	heart
45	chr19:42852400-42860200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr19:42852400-42867200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:42852400-42867800	Weak transcription	Primary T cells from cord blood	blood
48	chr19:42853000-42867400	Strong transcription	Lung	lung
49	chr19:42853600-42862800	Strong transcription	Esophagus	oesophagus
50	chr19:42853800-42863200	Strong transcription	Brain Hippocampus Middle	brain

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