Variant report

Variant	rs11881477
Chromosome Location	chr19:39948779-39948780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39947880..39949976-chr19:39958655..39960289,2	MCF-7	breast:
2	chr19:39947815..39949510-chr19:39975198..39977049,2	MCF-7	breast:
3	chr19:39898553..39902206-chr19:39948362..39950815,3	K562	blood:

Variant related genes	Relation type
SUPT5H	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000105197	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17626	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17628	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs480595	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs480656	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs481421	0.88[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs504017	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs530411	0.84[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs640000	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651601	0.88[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[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	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
5	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11881477	PRX	cis	parietal	SCAN
rs11881477	RPS16	cis	lymphoblastoid	seeQTL
rs11881477	RPS16	cis	Lymphoblastoid	GTEx
rs11881477	RPS16	cis	multi-tissue	Pritchard
rs11881477	RPS16	cis	Heart Left Ventricle	GTEx
rs11881477	PHLDB3	cis	parietal	SCAN
rs11881477	BCAM	cis	parietal	SCAN
rs11881477	LOC441876///RPS16	Cis_1M	lymphoblastoid	RTeQTL
rs11881477	RPS16	cis	Muscle Skeletal	GTEx
rs11881477	RPS16	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39936800-39949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39937000-39949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
5	chr19:39937600-39950000	Weak transcription	Fetal Brain Male	brain
6	chr19:39938600-39967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:39939000-39950000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:39939000-39953400	Strong transcription	Fetal Intestine Small	intestine
9	chr19:39939200-39948800	Weak transcription	Stomach Mucosa	stomach
10	chr19:39939200-39967600	Strong transcription	Fetal Thymus	thymus
11	chr19:39939400-39968800	Strong transcription	Fetal Stomach	stomach
12	chr19:39940000-39950400	Weak transcription	Small Intestine	intestine
13	chr19:39940000-39952200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:39940000-39968000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr19:39940200-39968600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:39940200-39968600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:39940200-39968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:39940200-39970600	Weak transcription	Fetal Heart	heart
19	chr19:39940400-39949000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:39941000-39951800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:39941200-39949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:39941200-39952800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:39941200-39953200	Strong transcription	Dnd41	blood
24	chr19:39941200-39954200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:39941400-39952200	Strong transcription	Fetal Brain Female	brain
26	chr19:39941400-39967400	Strong transcription	Fetal Intestine Large	intestine
27	chr19:39942000-39967400	Strong transcription	Thymus	Thymus
28	chr19:39942000-39967600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:39942200-39953200	Strong transcription	Brain Angular Gyrus	brain
30	chr19:39942200-39967600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr19:39942200-39967600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:39942200-39967600	Strong transcription	Placenta	Placenta
33	chr19:39942200-39967600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr19:39942200-39967800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:39942400-39952400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr19:39942400-39953400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:39942600-39953800	Strong transcription	Ovary	ovary
38	chr19:39942600-39967600	Strong transcription	Liver	Liver
39	chr19:39942800-39967400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:39942800-39967800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:39943000-39949000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:39943000-39952200	Strong transcription	GM12878-XiMat	blood
43	chr19:39943000-39952400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:39943000-39967200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr19:39943000-39967800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:39943200-39967800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:39943400-39949200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:39943400-39967400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:39944000-39953600	Strong transcription	Left Ventricle	heart
50	chr19:39944000-39967400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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