Variant report

Variant	rs10132412
Chromosome Location	chr14:77988063-77988064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77935395..77937694-chr14:77986680..77989450,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs45595936	0.94[AMR][1000 genomes];0.97[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	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
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10132412	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	chr14:77972600-77991400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr14:77972600-77992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:77972800-77988200	Strong transcription	Primary T cells from cord blood	blood
12	chr14:77973000-77988600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:77973200-77988600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:77974000-77989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:77975200-77988400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:77975800-77990000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
18	chr14:77978400-77992000	Weak transcription	NHLF	lung
19	chr14:77978600-77992400	Weak transcription	Fetal Lung	lung
20	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:77978800-77989000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:77978800-77989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:77978800-77991400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:77978800-77992800	Weak transcription	Fetal Brain Female	brain
25	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
26	chr14:77979000-78003800	Weak transcription	K562	blood
27	chr14:77979000-78009400	Weak transcription	Stomach Mucosa	stomach
28	chr14:77979000-78013800	Weak transcription	Pancreas	Pancrea
29	chr14:77979400-77997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:77980000-77988400	Strong transcription	Adipose Nuclei	Adipose
31	chr14:77980400-77988400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:77980600-77988400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:77980600-77988600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:77980600-77990000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr14:77980600-77990000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:77980800-77988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:77980800-77990000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:77981000-77989600	Strong transcription	NH-A	brain
39	chr14:77981200-77988400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:77982800-77988800	Strong transcription	Osteobl	bone
41	chr14:77982800-77999800	Weak transcription	A549	lung
42	chr14:77983200-77988400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:77983200-77988600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:77983800-77988400	Strong transcription	HSMMtube	muscle
45	chr14:77983800-77988600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:77984000-77988400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:77984000-77988400	Strong transcription	Spleen	Spleen
48	chr14:77984000-77989400	Strong transcription	HUVEC	blood vessel
49	chr14:77984200-77988400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:77985000-77989600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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