Variant report

Variant	rs11065284
Chromosome Location	chr12:121266621-121266622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121261392..121264273-chr12:121265807..121267434,2	K562	blood:
2	chr12:121265512..121268113-chr12:121272336..121276095,3	MCF-7	breast:
3	chr12:121239385..121241045-chr12:121266410..121269390,2	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10774572	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849791	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849807	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065264	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065282	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065283	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065292	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065293	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065300	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065307	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065311	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1151849	0.81[ASN][1000 genomes]
rs1151859	0.82[ASN][1000 genomes]
rs1151862	0.82[ASN][1000 genomes]
rs11608262	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11611087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168944	0.83[ASN][1000 genomes]
rs1168946	0.83[ASN][1000 genomes]
rs1168948	0.83[ASN][1000 genomes]
rs1168953	0.83[ASN][1000 genomes]
rs1177585	0.83[ASN][1000 genomes]
rs1179939	0.83[ASN][1000 genomes]
rs12371178	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12579868	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12580949	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12822123	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12825746	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12831094	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1467283	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1542859	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1696357	0.80[EUR][1000 genomes]
rs2015462	0.83[ASN][1000 genomes]
rs2047568	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393717	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2461475	0.95[ASN][1000 genomes]
rs2650017	0.83[ASN][1000 genomes]
rs2893876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213566	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3213567	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3213570	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213572	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34009825	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34076777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706672	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35905305	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3809313	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3842985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3861797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3883901	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3897746	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3901854	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4454799	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs471688	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766979	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766980	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767937	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487943	0.85[ASN][1000 genomes]
rs494632	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs520753	0.84[ASN][1000 genomes]
rs525425	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs531782	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533264	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs534415	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs548452	0.85[ASN][1000 genomes]
rs572016	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs577961	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58291418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58918988	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs590625	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs602984	0.83[ASN][1000 genomes]
rs609700	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs610694	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs624216	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625228	0.98[ASN][1000 genomes]
rs647881	0.84[ASN][1000 genomes]
rs661647	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs665585	0.85[ASN][1000 genomes]
rs666976	0.83[ASN][1000 genomes]
rs7137504	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7305849	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73413868	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73415734	0.80[EUR][1000 genomes]
rs7969140	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs869781	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs909053	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9431	0.80[ASN][1000 genomes]
rs989986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11065284	SPPL3	cis	Adipose Subcutaneous	GTEx
rs11065284	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL
rs11065284	SPPL3	cis	Nerve Tibial	GTEx
rs11065284	ACADS	cis	Thyroid	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121222200-121274000	Weak transcription	Lung	lung
2	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
3	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:121248200-121267200	Weak transcription	Fetal Stomach	stomach
5	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:121248400-121266800	Weak transcription	Fetal Intestine Large	intestine
7	chr12:121248600-121267200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:121248800-121268600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:121248800-121270400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:121248800-121271800	Weak transcription	Dnd41	blood
12	chr12:121253800-121268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:121254000-121268600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:121255800-121270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:121256000-121267200	Weak transcription	Placenta	Placenta
16	chr12:121260200-121268800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:121260400-121270400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:121260600-121268600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:121260800-121272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:121261400-121268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:121261400-121269400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:121261600-121267800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:121261600-121268400	Weak transcription	Fetal Kidney	kidney
24	chr12:121261600-121268600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:121261600-121268600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:121261600-121268600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:121261600-121268600	Weak transcription	Right Atrium	heart
28	chr12:121261600-121268600	Weak transcription	Right Ventricle	heart
29	chr12:121261600-121268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:121261600-121268800	Weak transcription	Fetal Brain Female	brain
31	chr12:121261600-121268800	Weak transcription	Small Intestine	intestine
32	chr12:121261600-121268800	Weak transcription	Thymus	Thymus
33	chr12:121261600-121269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:121261600-121269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:121261600-121270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:121261600-121274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:121263600-121268600	Enhancers	A549	lung
38	chr12:121263600-121268800	Weak transcription	Primary T cells from cord blood	blood
39	chr12:121263600-121269200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:121263800-121266800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:121264400-121268400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:121264400-121268600	Weak transcription	Aorta	Aorta
43	chr12:121264400-121268600	Weak transcription	Left Ventricle	heart
44	chr12:121264400-121271000	Weak transcription	Spleen	Spleen
45	chr12:121264600-121268400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:121264600-121272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:121264800-121268600	Weak transcription	Fetal Heart	heart
48	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
49	chr12:121265200-121272000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:121265400-121268600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links