Variant report

Variant	rs16832786
Chromosome Location	chr1:161274905-161274906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161273354..161275189-chr1:161279747..161282095,2	MCF-7	breast:
2	chr1:161252880..161255836-chr1:161273696..161275808,2	MCF-7	breast:
3	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:

Variant related genes	Relation type
ENSG00000263548	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11579939	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11583870	0.84[EUR][1000 genomes]
rs11585941	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs12239719	1.00[JPT][hapmap]
rs16832793	1.00[JPT][hapmap]
rs16832847	1.00[CEU][hapmap]
rs16832849	1.00[CEU][hapmap]
rs4272646	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72714973	0.84[EUR][1000 genomes]
rs72714981	0.84[EUR][1000 genomes]
rs7519821	1.00[MEX][hapmap];0.88[TSI][hapmap]
rs7538701	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9793329	0.80[AMR][1000 genomes];0.85[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv517826	chr1:161263380-161277601	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16832786	MPZ	cis	intralobular white matter	BrainEAC
rs16832786	E2F5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161270000-161275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:161270800-161275000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:161272600-161275200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:161273200-161275000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:161273200-161275000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:161273400-161275000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:161273800-161275000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:161273800-161276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:161274000-161275200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:161274200-161275000	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:161274200-161275000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:161274200-161275000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:161274200-161275000	Enhancers	Liver	Liver
14	chr1:161274200-161275000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:161274200-161275000	Enhancers	Fetal Lung	lung
16	chr1:161274200-161275000	Enhancers	Fetal Stomach	stomach
17	chr1:161274200-161275000	Enhancers	HepG2	liver
18	chr1:161274200-161275200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:161274200-161275200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:161274200-161275400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:161274200-161275400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:161274200-161275400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:161274200-161276200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:161274200-161276200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:161274200-161276200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:161274400-161275000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:161274400-161275000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:161274400-161275200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:161274400-161275200	Enhancers	Small Intestine	intestine
30	chr1:161274400-161276200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:161274400-161276200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:161274400-161276200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:161274400-161276200	Active TSS	GM12878-XiMat	blood
34	chr1:161274400-161276400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:161274400-161276400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:161274600-161275000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:161274600-161275000	Active TSS	Brain Angular Gyrus	brain
38	chr1:161274600-161275000	Enhancers	Fetal Thymus	thymus
39	chr1:161274600-161275000	Enhancers	K562	blood
40	chr1:161274600-161275200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:161274600-161275200	Enhancers	Esophagus	oesophagus
42	chr1:161274600-161275200	Enhancers	Placenta	Placenta
43	chr1:161274600-161275400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:161274600-161275600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr1:161274600-161275600	Flanking Active TSS	Fetal Brain Female	brain
46	chr1:161274600-161275600	Enhancers	Spleen	Spleen
47	chr1:161274800-161275000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr1:161274800-161275000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:161274800-161275000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:161274800-161275000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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