Variant report

Variant	rs4026654
Chromosome Location	chr16:31893441-31893442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31723218..31725989-chr16:31891646..31893746,3	K562	blood:
2	chr16:31517832..31520648-chr16:31892374..31894301,2	K562	blood:
3	chr16:31893208..31894819-chr16:31924723..31927123,2	K562	blood:
4	chr16:31724116..31726069-chr16:31891646..31894239,2	K562	blood:
5	chr16:31730337..31731972-chr16:31892630..31894181,2	MCF-7	breast:
6	chr16:31191426..31193372-chr16:31891208..31893544,2	MCF-7	breast:
7	chr16:31724410..31726103-chr16:31891793..31894409,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261731	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10871460	0.86[EUR][1000 genomes]
rs11150650	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11150651	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12444740	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12599066	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12919368	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12924931	0.93[EUR][1000 genomes]
rs1506907	1.00[CEU][hapmap]
rs1827959	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1828131	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1857943	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2358778	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3843960	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3843961	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850114	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861268	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3861270	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913868	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913870	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913871	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4026652	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4026653	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4402587	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889517	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889518	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889563	1.00[CEU][hapmap];0.97[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4889565	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889568	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889569	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6565290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6565291	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7185691	0.87[AFR][1000 genomes]
rs7197804	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200162	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7202831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203345	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205034	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8048908	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs8056158	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8058598	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8059500	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060276	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8062514	1.00[CEU][hapmap]
rs9788838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921760	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928574	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928704	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[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	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1066522	chr16:31831196-31959992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1057300	chr16:31862900-31959992	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31886600-31893800	Weak transcription	Fetal Kidney	kidney
2	chr16:31886800-31894400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31886800-31897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:31886800-31898200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:31886800-31901000	Weak transcription	Fetal Brain Male	brain
6	chr16:31887000-31894000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr16:31887000-31895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:31887000-31901600	Weak transcription	Fetal Brain Female	brain
9	chr16:31887000-31902200	ZNF genes & repeats	A549	lung
10	chr16:31887200-31900800	Weak transcription	Brain Germinal Matrix	brain
11	chr16:31887400-31900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:31887800-31895800	Weak transcription	Fetal Lung	lung
13	chr16:31887800-31907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:31888400-31895600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr16:31888400-31895800	Weak transcription	Fetal Thymus	thymus
16	chr16:31888800-31895200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:31889000-31893800	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr16:31889200-31895800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:31889400-31894200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:31889400-31895400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr16:31889400-31911600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr16:31889600-31894000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:31889600-31897600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:31889800-31896400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:31890000-31893800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:31890000-31894000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr16:31890000-31895800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:31890000-31896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:31890000-31896600	Weak transcription	Aorta	Aorta
30	chr16:31890000-31896600	Weak transcription	Colonic Mucosa	Colon
31	chr16:31890000-31897600	Strong transcription	Fetal Intestine Large	intestine
32	chr16:31890200-31894400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:31890200-31895200	Weak transcription	Liver	Liver
34	chr16:31890200-31895800	Weak transcription	Thymus	Thymus
35	chr16:31890200-31896400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:31890200-31896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:31890200-31897600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:31890200-31905800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:31890400-31895200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:31890800-31894000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:31890800-31894000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr16:31891200-31894000	Enhancers	Stomach Mucosa	stomach
43	chr16:31891800-31901800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr16:31892000-31893800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:31892000-31894200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:31892000-31894200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31892000-31895200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr16:31892000-31897200	Weak transcription	Brain Angular Gyrus	brain
49	chr16:31892000-31900800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:31892000-31905000	Weak transcription	H9 Cell Line	embryonic stem cell

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