Variant report

Variant	rs11065231
Chromosome Location	chr12:121169356-121169357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121167755..121169709-chr12:121199569..121201088,2	K562	blood:
2	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
3	chr12:121161440..121165409-chr12:121166157..121170080,9	K562	blood:
4	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11065233	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17847	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2393749	0.91[ASN][1000 genomes]
rs34491494	0.83[AMR][1000 genomes]
rs3794214	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794215	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555404	0.80[EUR][1000 genomes]
rs575437	0.80[EUR][1000 genomes]
rs658521	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs695952	0.80[EUR][1000 genomes]
rs696337	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs696339	0.83[EUR][1000 genomes]
rs708783	0.80[EUR][1000 genomes]
rs7308648	0.91[ASN][1000 genomes]
rs7964786	0.91[ASN][1000 genomes]
rs7978125	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11065231	SPPL3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121169800	Weak transcription	NH-A	brain
3	chr12:121164200-121170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:121164200-121172600	Weak transcription	HSMMtube	muscle
5	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121164400-121169800	Weak transcription	HSMM	muscle
7	chr12:121164400-121170400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:121164400-121170400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:121164400-121170600	Weak transcription	NHDF-Ad	bronchial
10	chr12:121164400-121170800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:121164400-121170800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:121164400-121174800	Weak transcription	Esophagus	oesophagus
13	chr12:121164400-121176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:121164600-121172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
19	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:121164800-121169400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:121164800-121169400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:121164800-121169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:121164800-121169400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:121164800-121169400	Strong transcription	Fetal Stomach	stomach
26	chr12:121164800-121171600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:121164800-121173600	Weak transcription	GM12878-XiMat	blood
28	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:121165000-121169400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:121165000-121175200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:121165000-121176000	Weak transcription	Fetal Heart	heart
32	chr12:121165000-121177800	Weak transcription	A549	lung
33	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
34	chr12:121165400-121169800	Weak transcription	K562	blood
35	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
36	chr12:121166000-121174200	Weak transcription	Colonic Mucosa	Colon
37	chr12:121166000-121176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
39	chr12:121166200-121169400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:121167400-121169400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:121168000-121171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:121168400-121179200	Weak transcription	HepG2	liver
44	chr12:121168600-121170600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:121168600-121171000	Weak transcription	Adipose Nuclei	Adipose
46	chr12:121168600-121174800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:121168600-121175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:121168600-121176200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain

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