Variant report

Variant	rs2047601
Chromosome Location	chr16:48578101-48578102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48576310..48578328-chr16:48641352..48644093,2	K562	blood:
2	chr16:48572005..48574156-chr16:48576994..48578777,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12918232	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1345439	1.00[JPT][hapmap]
rs1420719	1.00[JPT][hapmap]
rs17754748	0.81[ASN][1000 genomes]
rs2354580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3103015	1.00[JPT][hapmap]
rs3785138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4028695	1.00[CHB][hapmap]
rs4315324	0.87[AMR][1000 genomes]
rs6500392	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046716	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8057605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9930255	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1060196	chr16:48531171-48578101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2047601	N4BP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
2	chr16:48569800-48580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:48570400-48578800	Strong transcription	Brain Germinal Matrix	brain
4	chr16:48571000-48580600	Weak transcription	NHDF-Ad	bronchial
5	chr16:48571200-48586000	Weak transcription	NH-A	brain
6	chr16:48571200-48586800	Weak transcription	HUVEC	blood vessel
7	chr16:48571600-48578200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:48571600-48586800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:48571800-48588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:48572200-48588400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:48572400-48578400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:48572400-48578800	Strong transcription	NHEK	skin
13	chr16:48572400-48585600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:48572400-48586000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:48572400-48592400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:48572600-48578400	Strong transcription	Gastric	stomach
17	chr16:48572600-48578800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:48572600-48580400	Strong transcription	Fetal Stomach	stomach
19	chr16:48572600-48581200	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:48572600-48581400	Weak transcription	Psoas Muscle	Psoas
21	chr16:48572600-48586000	Weak transcription	K562	blood
22	chr16:48572800-48580200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:48572800-48584000	Strong transcription	Thymus	Thymus
24	chr16:48572800-48587000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:48573000-48578200	Strong transcription	Pancreas	Pancrea
26	chr16:48573000-48578600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:48573200-48578400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:48573200-48579000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:48573200-48580000	Weak transcription	Stomach Mucosa	stomach
30	chr16:48573200-48586800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:48573200-48588600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr16:48573400-48580600	Strong transcription	Lung	lung
33	chr16:48573400-48582200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:48573600-48579600	Weak transcription	Fetal Heart	heart
35	chr16:48573600-48587000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:48573600-48587800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:48573600-48588600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:48573800-48578800	Strong transcription	Primary T cells from cord blood	blood
39	chr16:48573800-48578800	Strong transcription	Ovary	ovary
40	chr16:48573800-48586400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:48573800-48587800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr16:48573800-48588800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:48573800-48589400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:48573800-48589800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:48574000-48578800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:48574000-48584200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:48574000-48585400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr16:48574200-48589400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:48574400-48578800	Strong transcription	NHLF	lung
50	chr16:48574600-48578600	Strong transcription	Osteobl	bone

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