Variant report

Variant	rs251725
Chromosome Location	chr16:11948763-11948764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:11946957..11949554-chr16:12009472..12011603,2	MCF-7	breast:
2	chr16:11935740..11937833-chr16:11947415..11949733,2	MCF-7	breast:
3	chr16:11944103..11947078-chr16:11947331..11952478,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171490	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000266163	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs14817	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153027	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs33628	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33634	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33656	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33658	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370768	1.00[AMR][1000 genomes]
rs379936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs469657	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs636664	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73513691	1.00[AMR][1000 genomes]
rs73515603	1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes]
rs73515632	1.00[AMR][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	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11946200-11975600	Weak transcription	Aorta	Aorta
2	chr16:11946400-11969400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:11946400-11969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:11946400-11969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:11946400-11975600	Weak transcription	Esophagus	oesophagus
6	chr16:11946600-11950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:11946600-11950800	Weak transcription	A549	lung
8	chr16:11946600-11950800	Weak transcription	Osteobl	bone
9	chr16:11946600-11951000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:11946600-11951000	Weak transcription	NH-A	brain
11	chr16:11946600-11958400	Weak transcription	Psoas Muscle	Psoas
12	chr16:11946600-11959600	Weak transcription	NHLF	lung
13	chr16:11946600-11961200	Weak transcription	Stomach Mucosa	stomach
14	chr16:11946600-11961400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:11946600-11961400	Weak transcription	Fetal Kidney	kidney
16	chr16:11946600-11961400	Weak transcription	HSMM	muscle
17	chr16:11946600-11961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:11946600-11961800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:11946600-11961800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr16:11946600-11962000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr16:11946600-11962200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:11946600-11962400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:11946600-11962400	Weak transcription	HSMMtube	muscle
24	chr16:11946600-11966800	Weak transcription	Lung	lung
25	chr16:11946600-11969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:11946600-11970400	Weak transcription	Right Atrium	heart
27	chr16:11946800-11948800	Enhancers	Fetal Brain Male	brain
28	chr16:11946800-11949400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:11946800-11949600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:11946800-11951000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:11946800-11956600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:11946800-11962000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:11946800-11962200	Weak transcription	Thymus	Thymus
34	chr16:11947000-11949000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr16:11947000-11949000	Active TSS	GM12878-XiMat	blood
36	chr16:11947000-11951000	Weak transcription	Primary B cells from cord blood	blood
37	chr16:11947000-11954600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr16:11947000-11961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:11947000-11962000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr16:11947000-11962000	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:11947000-11962400	Weak transcription	Fetal Intestine Large	intestine
42	chr16:11947000-11969400	Weak transcription	Right Ventricle	heart
43	chr16:11947200-11950600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:11947200-11950800	Weak transcription	Placenta	Placenta
45	chr16:11947200-11960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:11947200-11966800	Weak transcription	Small Intestine	intestine
47	chr16:11947200-11967200	Weak transcription	Fetal Intestine Small	intestine
48	chr16:11947200-11967200	Weak transcription	Fetal Stomach	stomach
49	chr16:11947200-11968800	Weak transcription	Ovary	ovary
50	chr16:11947600-11948800	Enhancers	Adipose Nuclei	Adipose

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