Variant report

Variant	rs2886131
Chromosome Location	chr14:78020290-78020291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11159275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621440	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590866	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17751727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003633	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012998	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272587	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2272588	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34153615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36063635	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202833	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56225479	0.94[ASN][1000 genomes]
rs60221235	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153686	0.89[ASN][1000 genomes]
rs741850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003812	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014527	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2886131	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL
rs2886131	SPTLC2	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 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	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
3	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:77988400-78029400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:78002200-78020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:78009600-78021200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:78009600-78030000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:78009800-78050800	Weak transcription	Psoas Muscle	Psoas
10	chr14:78010000-78029800	Strong transcription	Primary T cells from cord blood	blood
11	chr14:78010200-78020400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:78010200-78026800	Weak transcription	Stomach Mucosa	stomach
13	chr14:78010400-78030000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:78010600-78025000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:78011000-78031800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:78011200-78045800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:78011400-78037400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:78013200-78030600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:78013200-78066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:78013400-78025800	Strong transcription	HSMM	muscle
21	chr14:78013600-78026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:78015200-78020400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:78015200-78023200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:78015200-78024400	Strong transcription	HUVEC	blood vessel
25	chr14:78015800-78020800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:78015800-78021200	Weak transcription	Gastric	stomach
27	chr14:78016000-78021200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:78016000-78021200	Weak transcription	Right Ventricle	heart
29	chr14:78016000-78021600	Weak transcription	Aorta	Aorta
30	chr14:78016000-78023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:78016000-78040000	Weak transcription	Pancreas	Pancrea
32	chr14:78016200-78020400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:78016200-78021000	Weak transcription	Colonic Mucosa	Colon
34	chr14:78016200-78021000	Weak transcription	Left Ventricle	heart
35	chr14:78016200-78021200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:78016200-78021200	Weak transcription	Thymus	Thymus
37	chr14:78016200-78023200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:78016200-78037200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:78016400-78020400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:78016400-78020400	Weak transcription	Brain Substantia Nigra	brain
41	chr14:78016400-78021000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:78016400-78021200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:78016400-78021200	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:78016400-78021200	Weak transcription	NHEK	skin
45	chr14:78016400-78021400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:78016400-78021400	Weak transcription	Brain Germinal Matrix	brain
47	chr14:78016400-78023200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:78016400-78061000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:78017200-78021000	Weak transcription	Fetal Intestine Small	intestine
50	chr14:78017200-78021200	Weak transcription	Esophagus	oesophagus

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