Variant report

Variant	rs8056158
Chromosome Location	chr16:31914232-31914233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11150650	0.98[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11150651	0.86[EUR][1000 genomes]
rs12444740	0.86[EUR][1000 genomes]
rs12599066	0.86[EUR][1000 genomes]
rs12919368	1.00[CEU][hapmap]
rs12924931	0.83[EUR][1000 genomes]
rs1506907	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1827959	0.89[EUR][1000 genomes]
rs1828131	0.86[EUR][1000 genomes]
rs1857943	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2358778	1.00[CEU][hapmap]
rs3843960	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3843961	0.89[EUR][1000 genomes]
rs3850114	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3861268	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3861270	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3913868	0.89[EUR][1000 genomes]
rs3913870	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3913871	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4026652	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4026654	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4402587	0.89[EUR][1000 genomes]
rs4889517	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4889518	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4889563	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4889565	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4889567	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4889568	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4889569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6565291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7197804	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7200162	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7202831	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7203345	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7205034	0.86[EUR][1000 genomes]
rs8048908	1.00[CEU][hapmap]
rs8059500	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8060276	0.99[AFR][1000 genomes]
rs8062514	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9788838	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9921760	0.86[EUR][1000 genomes]
rs9928574	0.98[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9928704	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9929494	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv833196	chr16:31897381-32068953	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1850460	chr16:31905688-32097085	Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31893600-31917800	Weak transcription	Colon Smooth Muscle	Colon
2	chr16:31903600-31916800	Weak transcription	Stomach Mucosa	stomach
3	chr16:31906600-31917200	Weak transcription	Pancreas	Pancrea
4	chr16:31907400-31917200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:31907600-31917200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:31907600-31921400	Weak transcription	Hela-S3	cervix
7	chr16:31907800-31917000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:31907800-31917000	Weak transcription	Fetal Stomach	stomach
9	chr16:31907800-31917200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:31907800-31917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:31907800-31917200	Weak transcription	Aorta	Aorta
12	chr16:31907800-31917200	Weak transcription	Esophagus	oesophagus
13	chr16:31907800-31917400	Weak transcription	Gastric	stomach
14	chr16:31907800-31924400	Weak transcription	HSMMtube	muscle
15	chr16:31908000-31917000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:31908000-31917000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:31908000-31917000	Weak transcription	Thymus	Thymus
18	chr16:31908000-31917200	Weak transcription	Left Ventricle	heart
19	chr16:31908000-31917200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:31908000-31917200	Weak transcription	Right Ventricle	heart
21	chr16:31908000-31917400	Weak transcription	Ovary	ovary
22	chr16:31908000-31924600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:31908200-31917400	Weak transcription	Small Intestine	intestine
24	chr16:31908800-31917200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:31908800-31917400	Weak transcription	Placenta	Placenta
26	chr16:31909400-31917000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:31909400-31917200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:31909400-31917800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:31909400-31918200	Weak transcription	HepG2	liver
30	chr16:31909600-31917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:31909600-31917000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:31909600-31917000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:31909600-31920800	Weak transcription	K562	blood
34	chr16:31909800-31917000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:31909800-31917000	Weak transcription	Brain Substantia Nigra	brain
36	chr16:31910200-31917200	Weak transcription	Dnd41	blood
37	chr16:31910400-31922400	Weak transcription	HSMM	muscle
38	chr16:31910600-31917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:31911000-31917000	Weak transcription	Liver	Liver
40	chr16:31911000-31917000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:31911200-31917200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:31911400-31917000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:31911600-31917000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:31911800-31917200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:31912000-31917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:31912000-31917000	Weak transcription	Primary B cells from cord blood	blood
47	chr16:31912000-31917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:31912000-31917000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:31912000-31917000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:31912000-31917000	Weak transcription	Fetal Intestine Large	intestine

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