Variant report

Variant	rs12824150
Chromosome Location	chr12:121220031-121220032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121211334..121215369-chr12:121217344..121221098,3	K562	blood:
2	chr12:121219382..121222529-chr12:121225317..121227004,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10774572	0.83[CEU][hapmap]
rs10849791	0.86[CEU][hapmap]
rs10849807	0.82[CEU][hapmap]
rs11065282	0.85[CEU][hapmap]
rs11065283	0.85[CEU][hapmap]
rs11065292	0.83[CEU][hapmap]
rs11065300	0.83[CEU][hapmap]
rs11065301	0.91[CEU][hapmap]
rs11065311	0.85[CEU][hapmap]
rs11065324	0.85[CEU][hapmap]
rs12580949	0.84[CEU][hapmap]
rs12822123	0.82[CEU][hapmap]
rs1542859	0.85[CEU][hapmap]
rs1696357	0.85[CEU][hapmap]
rs2047568	0.85[CEU][hapmap]
rs2062507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3213570	0.89[CEU][hapmap]
rs3213572	0.85[CEU][hapmap]
rs3883901	0.84[CEU][hapmap]
rs3897746	0.85[CEU][hapmap]
rs3901854	0.85[CEU][hapmap]
rs4454799	0.85[CEU][hapmap]
rs4767935	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767937	0.86[CEU][hapmap]
rs7137504	0.85[CEU][hapmap]
rs869781	0.85[CEU][hapmap]
rs909053	0.85[CEU][hapmap]
rs989986	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12824150	SPPL3	cis	Nerve Tibial	GTEx
rs12824150	SPPL3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
5	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
6	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
7	chr12:121206600-121220400	Weak transcription	NH-A	brain
8	chr12:121206600-121220600	Weak transcription	NHLF	lung
9	chr12:121206800-121220600	Weak transcription	Hela-S3	cervix
10	chr12:121207000-121220200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
12	chr12:121207200-121220400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:121207200-121220400	Weak transcription	HMEC	breast
14	chr12:121207200-121220400	Weak transcription	NHEK	skin
15	chr12:121207200-121221800	Weak transcription	Colonic Mucosa	Colon
16	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
19	chr12:121207400-121220800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:121209600-121220400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:121209600-121220600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:121209800-121223400	Strong transcription	Fetal Thymus	thymus
25	chr12:121210400-121220600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:121211400-121260800	Weak transcription	Gastric	stomach
27	chr12:121211600-121220200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:121211800-121221800	Weak transcription	Lung	lung
29	chr12:121212600-121221800	Weak transcription	Spleen	Spleen
30	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
31	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
32	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
33	chr12:121212800-121220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:121212800-121228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121213200-121222200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121213400-121220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:121213400-121224800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:121213600-121223000	Strong transcription	Dnd41	blood
40	chr12:121214000-121220400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:121214000-121221000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:121214000-121221800	Weak transcription	Psoas Muscle	Psoas
43	chr12:121215000-121221200	Weak transcription	Brain Angular Gyrus	brain
44	chr12:121215000-121222800	Strong transcription	Liver	Liver
45	chr12:121215000-121224200	Weak transcription	Brain Substantia Nigra	brain
46	chr12:121215200-121222800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:121215400-121220400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:121215600-121220600	Strong transcription	Fetal Intestine Small	intestine
49	chr12:121215600-121220600	Strong transcription	Fetal Stomach	stomach
50	chr12:121215600-121222800	Strong transcription	Thymus	Thymus

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