Variant report

Variant	rs45537534
Chromosome Location	chr14:24807302-24807303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
2	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
3	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
4	chr14:24802266..24804821-chr14:24805922..24808045,3	K562	blood:
5	chr14:24805754..24808104-chr14:24833773..24836418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100968	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10143642	0.88[AMR][1000 genomes]
rs10146747	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11844732	0.90[EUR][1000 genomes]
rs12323359	0.88[AMR][1000 genomes]
rs28379107	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28453149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28620990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181247	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3212244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3212249	0.90[EUR][1000 genomes]
rs3212250	0.90[EUR][1000 genomes]
rs3212251	0.90[EUR][1000 genomes]
rs3212252	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3212253	0.90[EUR][1000 genomes]
rs34106261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56337365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs45537534	RIPK3	cis	Esophagus Mucosa	GTEx
rs45537534	RIPK3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24804400-24807800	Weak transcription	Pancreas	Pancrea
2	chr14:24804600-24807400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:24804600-24808000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:24804600-24808200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:24804800-24807800	Bivalent Enhancer	HepG2	liver
6	chr14:24804800-24808000	Weak transcription	Liver	Liver
7	chr14:24805000-24807400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:24805000-24807800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:24805000-24807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:24805000-24807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:24805000-24808000	Weak transcription	Small Intestine	intestine
12	chr14:24805200-24807400	Genic enhancers	Primary B cells from cord blood	blood
13	chr14:24805200-24807400	Weak transcription	Adipose Nuclei	Adipose
14	chr14:24805200-24807600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:24805200-24807800	Weak transcription	Right Ventricle	heart
16	chr14:24805400-24807400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:24805400-24807400	Strong transcription	Colonic Mucosa	Colon
18	chr14:24805400-24807400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr14:24805400-24807600	Strong transcription	Primary T cells from cord blood	blood
20	chr14:24805400-24807600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:24805400-24808200	Weak transcription	Osteobl	bone
22	chr14:24805400-24808400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:24805600-24807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:24805600-24807600	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:24805600-24807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:24805600-24807800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:24805600-24808200	Strong transcription	Fetal Intestine Small	intestine
28	chr14:24805600-24808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:24805800-24807800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:24805800-24808000	Weak transcription	HUVEC	blood vessel
31	chr14:24805800-24808000	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr14:24805800-24808200	Weak transcription	NHDF-Ad	bronchial
33	chr14:24806000-24807600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:24806000-24808000	Weak transcription	Placenta	Placenta
35	chr14:24806200-24807400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:24806200-24807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:24806200-24807400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:24806200-24807600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:24806200-24807800	Strong transcription	Thymus	Thymus
40	chr14:24806400-24807600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:24806400-24808000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:24806400-24808200	Enhancers	Left Ventricle	heart
43	chr14:24806400-24808400	Enhancers	Stomach Mucosa	stomach
44	chr14:24806800-24807400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:24806800-24807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:24806800-24808400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:24807000-24807400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr14:24807000-24807600	Weak transcription	Esophagus	oesophagus
49	chr14:24807000-24807800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:24807000-24807800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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