Variant report

Variant	rs10500567
Chromosome Location	chr16:71904178-71904179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71903459..71905308-chr16:71929420..71930996,2	MCF-7	breast:
2	chr16:71904035..71905862-chr16:71912738..71914421,2	MCF-7	breast:
3	chr16:71896567..71899503-chr16:71901717..71904863,3	K562	blood:
4	chr16:71902712..71905224-chr16:71915459..71917977,2	MCF-7	breast:
5	chr16:71841575..71843307-chr16:71901661..71904621,2	K562	blood:
6	chr16:71879010..71881429-chr16:71904099..71905621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224470	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261765	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10852505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap]
rs10852507	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075906	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075909	0.89[YRI][hapmap]
rs11075910	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11639843	0.86[ASN][1000 genomes]
rs11639902	1.00[CHB][hapmap]
rs11640135	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642529	1.00[CHB][hapmap]
rs11644740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11648557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11861296	0.82[JPT][hapmap]
rs11865456	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149307	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149325	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.82[JPT][hapmap]
rs12149917	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445641	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12448022	1.00[CHB][hapmap]
rs12448086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708919	1.00[CHB][hapmap]
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	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12934512	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13330178	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17357420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17358402	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288030	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs28667298	0.86[ASN][1000 genomes]
rs2878494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3088285	0.90[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	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35535529	0.86[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4528577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4788568	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4788575	0.85[JPT][hapmap]
rs4788579	1.00[CHB][hapmap];0.85[JPT][hapmap]
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	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7187418	0.89[YRI][hapmap]
rs7188591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7191848	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7195988	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7198834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[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]
rs7202840	1.00[CHB][hapmap]
rs73586164	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046044	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049163	1.00[CHB][hapmap]
rs8049508	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8050058	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8051878	1.00[CHB][hapmap]
rs8052358	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053906	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8054602	0.89[YRI][hapmap]
rs8063657	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9939404	0.88[YRI][hapmap]
rs9939911	1.00[JPT][hapmap]
rs9940234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10500567	RP11-432I5.1	cis	Thyroid	GTEx

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	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
8	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
9	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
11	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
12	chr16:71888000-71916400	Weak transcription	NHEK	skin
13	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:71890200-71913000	Weak transcription	Osteobl	bone
15	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
17	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr16:71892600-71904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr16:71893000-71905200	Strong transcription	Brain Anterior Caudate	brain
20	chr16:71893200-71904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:71893400-71904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:71894600-71904200	Strong transcription	Fetal Intestine Large	intestine
24	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:71895000-71904400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:71896000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:71896000-71913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:71896800-71916600	Weak transcription	NHLF	lung
30	chr16:71897600-71904200	Strong transcription	Primary B cells from cord blood	blood
31	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
34	chr16:71898400-71912400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
36	chr16:71898600-71912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr16:71898800-71912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:71899000-71906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr16:71899000-71909000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr16:71899000-71910400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:71899000-71912800	Weak transcription	Left Ventricle	heart
45	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:71899000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:71899000-71913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:71899000-71914200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus

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