Variant report

Variant	rs11703927
Chromosome Location	chr22:31644964-31644965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31642122..31645635-chr22:31666318..31668990,3	MCF-7	breast:
2	chr22:31642936..31645707-chr22:31684888..31688055,3	MCF-7	breast:
3	chr22:31607254..31610426-chr22:31643805..31645899,3	MCF-7	breast:
4	chr22:31643031..31646502-chr22:31653237..31655706,4	MCF-7	breast:
5	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
6	chr22:31642310..31646378-chr22:31653276..31655946,3	MCF-7	breast:
7	chr22:31555142..31556725-chr22:31643704..31646530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264141	Chromatin interaction
ENSG00000138942	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12166373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12167361	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13056815	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13057841	0.85[EUR][1000 genomes]
rs131200	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131202	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131219	0.89[EUR][1000 genomes]
rs140074	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs140077	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2009132	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013254	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2413048	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523714	0.85[EUR][1000 genomes]
rs28715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28716	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28813120	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34873968	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820045	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs4820961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820969	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753558	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753576	0.89[EUR][1000 genomes]
rs5994376	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994397	0.93[CEU][hapmap]
rs5997887	0.80[EUR][1000 genomes]
rs5997900	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997909	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997932	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997938	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997960	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997971	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6518737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6518745	0.93[CEU][hapmap]
rs713947	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7286648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7287402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288643	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289189	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7289337	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141987	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8143002	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs926928	0.92[CEU][hapmap]
rs9606835	0.86[EUR][1000 genomes]
rs9619169	0.80[EUR][1000 genomes]
rs9619187	0.95[EUR][1000 genomes]
rs9621216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9621227	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11703927	DRG1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31641200-31645000	Weak transcription	GM12878-XiMat	blood
2	chr22:31641200-31646600	Weak transcription	A549	lung
3	chr22:31641400-31649600	Weak transcription	Hela-S3	cervix
4	chr22:31642800-31648200	Enhancers	Stomach Mucosa	stomach
5	chr22:31643000-31645000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:31643400-31645200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr22:31643800-31645000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31643800-31645000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:31643800-31645000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr22:31643800-31645000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr22:31643800-31645200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr22:31643800-31645200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
13	chr22:31643800-31645400	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr22:31643800-31645400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr22:31643800-31645400	Genic enhancers	Spleen	Spleen
16	chr22:31643800-31645600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:31643800-31645600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:31643800-31646000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:31643800-31646600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:31644000-31645000	Active TSS	Brain Anterior Caudate	brain
21	chr22:31644000-31645000	Active TSS	Brain Germinal Matrix	brain
22	chr22:31644000-31645000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
23	chr22:31644000-31645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr22:31644000-31645200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr22:31644000-31645200	Active TSS	Brain Cingulate Gyrus	brain
26	chr22:31644000-31645200	Active TSS	Right Atrium	heart
27	chr22:31644000-31645400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31644000-31645400	Active TSS	Brain Angular Gyrus	brain
29	chr22:31644000-31645400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr22:31644000-31645600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:31644000-31645800	Flanking Active TSS	NH-A	brain
32	chr22:31644000-31646400	Active TSS	Brain Hippocampus Middle	brain
33	chr22:31644000-31647200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
34	chr22:31644200-31645000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:31644200-31645000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr22:31644200-31645000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr22:31644200-31645000	Active TSS	Pancreas	Pancrea
38	chr22:31644200-31645000	Active TSS	NHDF-Ad	bronchial
39	chr22:31644200-31645200	Active TSS	Aorta	Aorta
40	chr22:31644200-31645200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr22:31644200-31645200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr22:31644200-31645200	Active TSS	NHEK	skin
43	chr22:31644200-31645400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:31644200-31645600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:31644200-31645800	Flanking Active TSS	Placenta	Placenta
46	chr22:31644200-31645800	Genic enhancers	Gastric	stomach
47	chr22:31644200-31646000	Active TSS	Fetal Kidney	kidney
48	chr22:31644200-31646000	Active TSS	Ovary	ovary
49	chr22:31644200-31646200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31644200-31646200	Active TSS	HMEC	breast

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