Variant report

Variant	rs7120957
Chromosome Location	chr11:47340649-47340650
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	chr11:47339728..47342271-chr11:47350100..47351829,2	MCF-7	breast:
2	chr11:47340547..47341169-chr11:47376503..47377448,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10501321	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1052373	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1055510	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10742799	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10742801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769252	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838684	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10838690	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838691	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838692	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838693	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039156	0.86[EUR][1000 genomes]
rs11039166	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039167	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12222581	0.87[AFR][1000 genomes]
rs12575456	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1375688	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1449627	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2013867	0.84[EUR][1000 genomes]
rs2167079	0.83[EUR][1000 genomes]
rs2269434	0.85[EUR][1000 genomes]
rs2279239	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2301216	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305280	0.81[AFR][1000 genomes]
rs326214	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs326222	0.84[EUR][1000 genomes]
rs35879051	0.88[EUR][1000 genomes]
rs3758669	0.83[EUR][1000 genomes]
rs3758672	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3758673	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781621	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781622	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816725	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3847502	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752822	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4752824	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752825	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752979	0.87[AFR][1000 genomes]
rs4752980	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59663860	0.88[EUR][1000 genomes]
rs61896050	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485746	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6485751	0.87[AFR][1000 genomes]
rs67871383	0.83[ASN][1000 genomes]
rs7109147	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7109203	0.80[EUR][1000 genomes]
rs7120118	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7124955	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7127907	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7129661	0.85[EUR][1000 genomes]
rs7395581	0.82[EUR][1000 genomes]
rs7940809	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830085	0.83[EUR][1000 genomes]
rs901746	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7120957	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs7120957	PACSIN3	cis	Esophagus Mucosa	GTEx
rs7120957	ACP2	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
5	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:47300000-47341200	Strong transcription	Placenta	Placenta
7	chr11:47311800-47348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:47322400-47341000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:47323400-47341600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr11:47323400-47352400	Strong transcription	Thymus	Thymus
11	chr11:47324200-47354600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:47324600-47341400	Strong transcription	Primary T cells from cord blood	blood
13	chr11:47324600-47346800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:47324800-47341000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:47324800-47352600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:47325000-47352400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47325000-47352800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:47325200-47341000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:47325200-47344000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr11:47325200-47347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:47325400-47341400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:47325400-47346600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:47325400-47349200	Strong transcription	Fetal Thymus	thymus
24	chr11:47325400-47353000	Strong transcription	Fetal Intestine Small	intestine
25	chr11:47326000-47353600	Strong transcription	Fetal Stomach	stomach
26	chr11:47327400-47341200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:47327800-47352200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:47328000-47341000	Strong transcription	Adipose Nuclei	Adipose
29	chr11:47328200-47351400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:47329000-47341000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:47329800-47341400	Strong transcription	Fetal Intestine Large	intestine
32	chr11:47330600-47341600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47330800-47345200	Weak transcription	Stomach Mucosa	stomach
34	chr11:47331400-47345800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:47333000-47349400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:47333400-47346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:47333600-47342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:47333800-47341400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:47333800-47345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:47333800-47350600	Weak transcription	Psoas Muscle	Psoas
41	chr11:47334200-47342800	Weak transcription	Gastric	stomach
42	chr11:47335000-47341000	Strong transcription	Lung	lung
43	chr11:47335200-47343400	Weak transcription	Right Ventricle	heart
44	chr11:47335600-47341000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:47335600-47341000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:47335800-47341000	Strong transcription	Primary B cells from cord blood	blood
47	chr11:47336400-47350400	Weak transcription	HMEC	breast
48	chr11:47336600-47346800	Weak transcription	NHDF-Ad	bronchial
49	chr11:47337000-47342600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:47337000-47342800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links