Variant report

Variant	rs10146621
Chromosome Location	chr14:78304869-78304870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10132900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752308	0.95[ASN][1000 genomes]
rs17752428	0.95[ASN][1000 genomes]
rs17752707	0.95[ASN][1000 genomes]
rs17752869	1.00[ASN][1000 genomes]
rs17752882	1.00[ASN][1000 genomes]
rs17752950	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825422	0.95[ASN][1000 genomes]
rs17825834	1.00[ASN][1000 genomes]
rs45610535	0.95[ASN][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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10146621	SPTLC2	cis	Nerve Tibial	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
2	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
4	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:78287000-78309600	Weak transcription	Osteobl	bone
11	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:78289600-78305000	Weak transcription	Fetal Thymus	thymus
15	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
16	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:78289800-78306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:78289800-78309600	Weak transcription	Fetal Brain Female	brain
19	chr14:78290200-78305600	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:78292800-78305600	Weak transcription	Thymus	Thymus
21	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
22	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
23	chr14:78297600-78305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:78297600-78324000	Weak transcription	Ovary	ovary
26	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
27	chr14:78297800-78305800	Weak transcription	Primary B cells from cord blood	blood
28	chr14:78297800-78306600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:78298200-78311000	Weak transcription	Fetal Intestine Large	intestine
33	chr14:78298200-78311200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:78298400-78306800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:78299000-78305800	Weak transcription	Placenta	Placenta
36	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:78299400-78305200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:78299400-78305600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:78299600-78305200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:78299600-78305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:78300000-78305200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:78301400-78305800	Weak transcription	Fetal Stomach	stomach
45	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
46	chr14:78301400-78325200	Weak transcription	Gastric	stomach
47	chr14:78301400-78325400	Weak transcription	Lung	lung
48	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:78302200-78308400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:78302200-78309600	Weak transcription	Stomach Smooth Muscle	stomach

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