Variant report

Variant	rs12417071
Chromosome Location	chr11:75220697-75220698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:75219144-75220766	PBDE	blood:	n/a	chr11:75220324-75220336 chr11:75220316-75220333

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75141144..75142863-chr11:75220574..75223014,2	MCF-7	breast:
2	chr11:75220615..75223491-chr11:75231021..75233361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254460	TF binding region
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12277421	1.00[JPT][hapmap]
rs12789498	1.00[YRI][hapmap]
rs35477669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35850995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527048	1.00[YRI][hapmap]
rs608585	1.00[YRI][hapmap]
rs640264	1.00[YRI][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12417071	GDPD5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75212600-75227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:75215600-75223600	Enhancers	Adipose Nuclei	Adipose
3	chr11:75215800-75222000	Enhancers	Fetal Intestine Large	intestine
4	chr11:75216000-75222600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:75216200-75233600	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:75216400-75221600	Enhancers	Fetal Muscle Leg	muscle
7	chr11:75216400-75221800	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:75216400-75222000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:75217000-75221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:75217800-75221600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:75217800-75221600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr11:75217800-75221800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:75217800-75222600	Enhancers	Placenta	Placenta
14	chr11:75217800-75234800	Weak transcription	Ovary	ovary
15	chr11:75218000-75221400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:75218000-75223400	Enhancers	HepG2	liver
17	chr11:75218200-75221400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:75218200-75221800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:75218200-75222200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:75218400-75221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:75218400-75221800	Weak transcription	Fetal Stomach	stomach
22	chr11:75218600-75221600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:75218800-75224400	Weak transcription	Right Ventricle	heart
24	chr11:75219000-75220800	Enhancers	K562	blood
25	chr11:75219000-75224800	Weak transcription	Left Ventricle	heart
26	chr11:75219000-75231800	Weak transcription	Right Atrium	heart
27	chr11:75219200-75222000	Enhancers	A549	lung
28	chr11:75220200-75221200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75220200-75222600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:75220200-75225600	Weak transcription	GM12878-XiMat	blood
31	chr11:75220400-75220800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:75220400-75221200	Weak transcription	Spleen	Spleen
33	chr11:75220400-75221400	Weak transcription	Fetal Brain Male	brain
34	chr11:75220400-75221400	Weak transcription	Fetal Brain Female	brain
35	chr11:75220400-75221400	Weak transcription	Psoas Muscle	Psoas
36	chr11:75220400-75221600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:75220400-75222600	Weak transcription	Pancreas	Pancrea
38	chr11:75220400-75223000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:75220400-75224800	Weak transcription	HSMMtube	muscle
40	chr11:75220400-75226600	Weak transcription	Primary T cells from cord blood	blood
41	chr11:75220400-75227200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:75220400-75227400	Weak transcription	Esophagus	oesophagus
43	chr11:75220400-75228000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:75220600-75221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:75220600-75221000	Weak transcription	Lung	lung
47	chr11:75220600-75221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:75220600-75223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:75220600-75224400	Weak transcription	Hela-S3	cervix
50	chr11:75220600-75227200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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