Variant report

Variant	rs10418079
Chromosome Location	chr19:36613975-36613976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36612874..36616073-chr19:36617819..36620812,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1009381	0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10406862	0.85[YRI][hapmap]
rs10419924	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10420345	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10421377	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10422055	0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10425700	0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs11666192	0.81[ASN][1000 genomes]
rs11879369	0.90[EUR][1000 genomes]
rs12608517	0.85[YRI][hapmap]
rs12971639	0.93[EUR][1000 genomes]
rs12971936	0.96[EUR][1000 genomes]
rs12972828	0.93[EUR][1000 genomes]
rs12981698	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2023866	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2072605	0.82[EUR][1000 genomes]
rs2074435	0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2075472	0.81[ASN][1000 genomes]
rs2141959	0.83[ASN][1000 genomes]
rs2227260	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2231568	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301737	0.81[ASN][1000 genomes]
rs3810447	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4555271	0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs4806249	0.86[YRI][hapmap]
rs4806254	0.86[YRI][hapmap]
rs4806262	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4806273	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806276	0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs7250364	0.81[ASN][1000 genomes]
rs7257026	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7258807	0.85[YRI][hapmap]
rs8104047	0.96[EUR][1000 genomes]
rs8104053	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10418079	POLR2I///RPSA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
2	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
3	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
5	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
7	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
8	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
9	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
10	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
12	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
13	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:36607600-36617000	Strong transcription	Osteobl	bone
15	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
18	chr19:36607600-36618400	Weak transcription	K562	blood
19	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:36608000-36616800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:36608000-36617000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:36608000-36617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:36608000-36617000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:36608000-36617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:36608000-36617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:36608000-36617200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:36608000-36617200	Strong transcription	Adipose Nuclei	Adipose
30	chr19:36608000-36617200	Strong transcription	Spleen	Spleen
31	chr19:36608000-36617200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr19:36608000-36617800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:36608000-36618000	Strong transcription	Fetal Stomach	stomach
34	chr19:36608200-36615800	Weak transcription	Hela-S3	cervix
35	chr19:36608200-36617000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:36608200-36617000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:36608200-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:36608200-36617200	Strong transcription	A549	lung
39	chr19:36608200-36618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:36608400-36614200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr19:36608400-36616000	Weak transcription	HMEC	breast
42	chr19:36608400-36616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:36608600-36617000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36608800-36617000	Strong transcription	Colon Smooth Muscle	Colon
45	chr19:36608800-36617000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:36608800-36617000	Strong transcription	NHLF	lung
47	chr19:36608800-36617200	Strong transcription	Gastric	stomach
48	chr19:36609000-36615200	Strong transcription	Pancreas	Pancrea
49	chr19:36609000-36617000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:36609000-36617000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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