Variant report

Variant	rs12436583
Chromosome Location	chr14:77979514-77979515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10147023	0.89[EUR][1000 genomes]
rs10149323	0.81[EUR][1000 genomes]
rs12433414	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28776598	0.84[EUR][1000 genomes]
rs4903589	0.89[EUR][1000 genomes]
rs6574379	0.83[EUR][1000 genomes]
rs7147867	0.89[EUR][1000 genomes]
rs7155181	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7159082	1.00[ASN][1000 genomes]
rs73319055	0.81[EUR][1000 genomes]
rs8004601	0.88[EUR][1000 genomes]
rs8010250	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8010934	0.89[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12436583	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77970600-77988600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:77970800-77992600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:77971000-77991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:77971600-77991800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
7	chr14:77972200-77991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:77972200-77991600	Strong transcription	Primary B cells from cord blood	blood
9	chr14:77972400-77987000	Weak transcription	Psoas Muscle	Psoas
10	chr14:77972600-77991400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:77972600-77992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:77972800-77984400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:77972800-77988200	Strong transcription	Primary T cells from cord blood	blood
14	chr14:77973000-77988600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:77973200-77988600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:77974000-77989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:77974200-77979600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr14:77974600-77980000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:77974600-77985000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr14:77975200-77988400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:77975800-77990000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:77976800-77980600	Strong transcription	Fetal Intestine Small	intestine
23	chr14:77976800-77980600	Strong transcription	Spleen	Spleen
24	chr14:77977000-77980600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:77977000-77980800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:77977600-77981600	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
28	chr14:77978400-77986600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:77978400-77992000	Weak transcription	NHLF	lung
30	chr14:77978600-77981200	Weak transcription	Fetal Thymus	thymus
31	chr14:77978600-77987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:77978600-77992400	Weak transcription	Fetal Lung	lung
33	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:77978800-77980600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:77978800-77980600	Weak transcription	HUVEC	blood vessel
36	chr14:77978800-77980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:77978800-77980800	Weak transcription	GM12878-XiMat	blood
38	chr14:77978800-77981000	Weak transcription	NH-A	brain
39	chr14:77978800-77981400	Weak transcription	HMEC	breast
40	chr14:77978800-77982200	Weak transcription	A549	lung
41	chr14:77978800-77982600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:77978800-77983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:77978800-77983800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:77978800-77983800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:77978800-77983800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:77978800-77983800	Weak transcription	Colonic Mucosa	Colon
47	chr14:77978800-77984000	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:77978800-77984000	Weak transcription	Left Ventricle	heart
49	chr14:77978800-77984200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:77978800-77984200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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