Variant report

Variant	rs12418009
Chromosome Location	chr11:73871013-73871014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73870610..73873341-chr11:73878744..73880523,2	MCF-7	breast:
2	chr11:73867295..73869674-chr11:73870591..73872466,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12416880	1.00[CEU][hapmap]
rs12417457	1.00[CEU][hapmap]
rs12417835	1.00[CEU][hapmap]
rs12419308	0.93[EUR][1000 genomes]
rs12421228	1.00[CEU][hapmap]
rs12421595	1.00[CEU][hapmap]
rs17132911	1.00[CEU][hapmap]
rs7120554	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120763	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12418009	PGM2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
6	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
7	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:73847800-73875000	Weak transcription	Fetal Lung	lung
9	chr11:73847800-73875200	Weak transcription	Left Ventricle	heart
10	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
11	chr11:73848000-73873000	Weak transcription	GM12878-XiMat	blood
12	chr11:73849600-73873800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:73849600-73875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:73850200-73879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:73850800-73872200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:73850800-73875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:73850800-73875600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:73851000-73871400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:73852000-73877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:73852600-73873800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:73852800-73877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:73852800-73878000	Weak transcription	Psoas Muscle	Psoas
23	chr11:73853400-73875200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:73853800-73875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:73854000-73881000	Weak transcription	Lung	lung
26	chr11:73858600-73873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73858600-73880200	Weak transcription	NHLF	lung
28	chr11:73858600-73880800	Weak transcription	Ovary	ovary
29	chr11:73858600-73881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:73859000-73880000	Weak transcription	HepG2	liver
31	chr11:73860000-73873000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:73860000-73880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:73861000-73874400	Weak transcription	Fetal Intestine Large	intestine
34	chr11:73862200-73877400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73864000-73875800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:73864600-73871400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:73864800-73873800	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:73865000-73871600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:73865200-73871200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:73865200-73875800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:73865200-73879600	Strong transcription	Fetal Thymus	thymus
42	chr11:73866000-73880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:73866200-73873600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:73866200-73873800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:73866200-73874600	Weak transcription	Fetal Brain Female	brain
46	chr11:73866200-73876200	Weak transcription	Osteobl	bone
47	chr11:73866200-73878600	Weak transcription	NHDF-Ad	bronchial
48	chr11:73866200-73880600	Weak transcription	Small Intestine	intestine
49	chr11:73866400-73873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:73866400-73876800	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links