Variant report

Variant	rs12419308
Chromosome Location	chr11:73768553-73768554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73684220..73687035-chr11:73766877..73770022,3	MCF-7	breast:
2	chr11:73715121..73717630-chr11:73768007..73770046,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12417424	0.96[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs12418009	0.93[EUR][1000 genomes]
rs17132534	1.00[GIH][hapmap]
rs17132555	0.89[LWK][hapmap]
rs2632725	1.00[GIH][hapmap]
rs7110607	0.93[LWK][hapmap]
rs7120554	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7120763	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12419308	PGM2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73740000-73771000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73750800-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:73750800-73800400	Weak transcription	HMEC	breast
5	chr11:73751000-73780200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73753000-73770400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:73753000-73781400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:73753200-73770800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73753200-73770800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:73753200-73778200	Weak transcription	Pancreas	Pancrea
11	chr11:73753200-73781600	Weak transcription	Fetal Kidney	kidney
12	chr11:73753200-73782000	Weak transcription	Fetal Brain Male	brain
13	chr11:73753200-73783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:73753200-73783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
16	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
17	chr11:73753400-73781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:73753400-73784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:73756000-73768800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:73756200-73768800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:73756400-73768800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:73757000-73769000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:73757200-73769000	Strong transcription	Dnd41	blood
24	chr11:73757200-73769400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:73757200-73770200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:73757400-73769000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:73758200-73771000	Strong transcription	Primary T cells from cord blood	blood
28	chr11:73758400-73782800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73758800-73779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:73759000-73783400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:73759200-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:73759400-73780600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:73759400-73781400	Weak transcription	Spleen	Spleen
34	chr11:73759400-73783600	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:73760000-73780200	Weak transcription	Fetal Intestine Large	intestine
36	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:73760200-73780600	Weak transcription	Hela-S3	cervix
38	chr11:73760600-73783200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:73760600-73785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:73760800-73779400	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:73760800-73780600	Weak transcription	Right Ventricle	heart
42	chr11:73760800-73781200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:73760800-73782000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:73761000-73770600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:73761000-73770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:73761000-73771000	Weak transcription	Esophagus	oesophagus
47	chr11:73761000-73771000	Weak transcription	Lung	lung
48	chr11:73761000-73779200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:73761000-73779400	Weak transcription	Gastric	stomach
50	chr11:73761000-73781600	Weak transcription	Brain Anterior Caudate	brain

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