Variant report

Variant	rs12300353
Chromosome Location	chr12:39154492-39154493
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	chr12:39148035..39150623-chr12:39154399..39156459,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10161183	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10783329	0.85[AMR][1000 genomes]
rs10875953	0.84[AMR][1000 genomes]
rs10875954	0.82[AMR][1000 genomes]
rs10876008	0.86[AMR][1000 genomes]
rs11169006	0.84[AMR][1000 genomes]
rs11169100	0.84[AMR][1000 genomes]
rs11169189	0.83[AMR][1000 genomes]
rs11169222	0.83[AMR][1000 genomes]
rs11169258	0.84[AMR][1000 genomes]
rs11169482	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169518	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11169519	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11169535	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11169616	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12229104	0.83[AMR][1000 genomes]
rs12231313	0.83[AMR][1000 genomes]
rs12822023	0.83[AMR][1000 genomes]
rs12831609	0.84[AMR][1000 genomes]
rs1352121	0.81[AMR][1000 genomes]
rs1386018	0.83[AMR][1000 genomes]
rs1586373	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1875609	0.80[AMR][1000 genomes]
rs34311455	0.83[AMR][1000 genomes]
rs35254764	0.83[AMR][1000 genomes]
rs35749392	0.82[EUR][1000 genomes]
rs3759139	0.81[AMR][1000 genomes]
rs3887436	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4616077	0.82[AMR][1000 genomes]
rs4768388	0.82[AFR][1000 genomes]
rs56344858	0.80[EUR][1000 genomes]
rs61937754	0.83[AMR][1000 genomes]
rs7309400	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7312879	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7315271	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316392	0.84[AMR][1000 genomes]
rs7957376	0.81[ASN][1000 genomes]
rs7960616	0.83[AMR][1000 genomes]
rs7960901	0.89[AFR][1000 genomes]
rs7979541	0.81[AMR][1000 genomes]

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	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12300353	ALG10B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39115800-39164400	Weak transcription	Lung	lung
3	chr12:39116000-39154800	Weak transcription	Aorta	Aorta
4	chr12:39118400-39165600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:39135800-39159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:39140600-39155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:39141000-39155800	Weak transcription	Ovary	ovary
8	chr12:39144200-39163400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:39144200-39173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:39144600-39156200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:39146400-39165400	Weak transcription	GM12878-XiMat	blood
12	chr12:39149400-39154800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:39149800-39155400	Weak transcription	Right Ventricle	heart
14	chr12:39150400-39154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:39151400-39157800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:39152200-39158000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:39152200-39161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:39152200-39171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:39152400-39155000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:39152600-39165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:39152800-39154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:39152800-39165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:39153200-39154800	Enhancers	Fetal Brain Male	brain
24	chr12:39153200-39157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:39153200-39158000	Strong transcription	Liver	Liver
26	chr12:39153600-39154600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:39153600-39155200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:39153600-39155200	Strong transcription	Adipose Nuclei	Adipose
29	chr12:39153800-39165400	Weak transcription	HMEC	breast
30	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:39154200-39154600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:39154200-39154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:39154200-39154600	Weak transcription	Left Ventricle	heart

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