Variant report

Variant	rs3809133
Chromosome Location	chr12:56520092-56520093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10747761	1.00[CHB][hapmap]
rs11171745	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11171746	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11834728	0.83[YRI][hapmap]
rs12309692	1.00[CHB][hapmap]
rs1689512	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2640569	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35509412	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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 target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3809133	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56513000-56521000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:56513400-56520200	Enhancers	HepG2	liver
3	chr12:56513600-56520200	Weak transcription	Fetal Brain Male	brain
4	chr12:56514000-56520200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:56514000-56520200	Weak transcription	Small Intestine	intestine
6	chr12:56515400-56520200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:56515800-56520200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:56515800-56520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:56515800-56520600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56515800-56521200	Weak transcription	Esophagus	oesophagus
11	chr12:56515800-56522000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:56516000-56520200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:56516000-56520200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:56516000-56520200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:56516000-56520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:56516000-56520400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:56516000-56520400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:56516000-56521000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:56516000-56521400	Weak transcription	Ovary	ovary
20	chr12:56516000-56522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:56516000-56522000	Weak transcription	Gastric	stomach
22	chr12:56516000-56522000	Weak transcription	Pancreas	Pancrea
23	chr12:56516200-56520200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:56516200-56521000	Weak transcription	Aorta	Aorta
25	chr12:56516200-56522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:56516800-56520200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:56516800-56520200	Weak transcription	NHLF	lung
28	chr12:56516800-56520400	Weak transcription	Fetal Brain Female	brain
29	chr12:56516800-56521200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:56517000-56520200	Weak transcription	Brain Germinal Matrix	brain
31	chr12:56517000-56520600	Weak transcription	Psoas Muscle	Psoas
32	chr12:56517000-56521400	Weak transcription	Left Ventricle	heart
33	chr12:56517400-56520600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:56517800-56520200	Weak transcription	HSMM	muscle
35	chr12:56517800-56520400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:56517800-56521200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:56518200-56520200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:56518200-56520200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:56518200-56520800	Enhancers	Dnd41	blood
40	chr12:56518400-56520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:56518400-56520400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:56518600-56520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:56518800-56520200	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:56518800-56520200	Enhancers	Primary T cells from cord blood	blood
45	chr12:56518800-56521200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:56518800-56521200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:56518800-56521400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:56519000-56521200	Enhancers	Fetal Thymus	thymus
49	chr12:56519000-56521400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:56519200-56520400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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