Variant report

Variant	rs12448086
Chromosome Location	chr16:71909230-71909231
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	chr16:71907603..71909837-chr16:71910432..71912872,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10500567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852507	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075906	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639843	0.86[ASN][1000 genomes]
rs11640135	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644740	0.86[ASN][1000 genomes]
rs11865456	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149307	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149325	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149917	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445564	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445641	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921279	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921459	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927691	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12934512	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13330178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17357420	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17358402	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28667298	0.86[ASN][1000 genomes]
rs2878494	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3088285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34029919	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34101687	0.86[ASN][1000 genomes]
rs34664834	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35028754	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35209006	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35404791	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35535529	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35595148	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36182990	0.86[ASN][1000 genomes]
rs3751820	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4528577	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71384781	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71384782	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386939	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71386940	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71386942	0.86[ASN][1000 genomes]
rs7185027	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7188591	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7191848	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7195988	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197486	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7198834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200447	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73586164	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046044	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049508	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8050058	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052358	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053906	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063657	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940234	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
7	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
8	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
9	chr16:71888000-71916400	Weak transcription	NHEK	skin
10	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:71890200-71913000	Weak transcription	Osteobl	bone
12	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:71896000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:71896000-71913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:71896800-71916600	Weak transcription	NHLF	lung
19	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
22	chr16:71898400-71912400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
24	chr16:71898600-71912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:71898800-71912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:71899000-71910400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:71899000-71912800	Weak transcription	Left Ventricle	heart
31	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:71899000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:71899000-71913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:71899000-71914200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
37	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
38	chr16:71899200-71914200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:71899400-71912800	Weak transcription	Fetal Brain Male	brain
40	chr16:71899400-71914400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:71899600-71909800	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:71899600-71909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:71899600-71910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:71899600-71913000	Weak transcription	Thymus	Thymus
45	chr16:71899600-71914200	Weak transcription	Spleen	Spleen
46	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
47	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
48	chr16:71900200-71912400	Weak transcription	NH-A	brain
49	chr16:71900200-71917200	Weak transcription	Gastric	stomach
50	chr16:71901000-71910400	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links