Variant report

Variant	rs4903619
Chromosome Location	chr14:78107756-78107757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10132804	0.80[ASN][1000 genomes]
rs10139421	0.80[ASN][1000 genomes]
rs10873310	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159282	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159285	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050437	0.99[ASN][1000 genomes]
rs12050439	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432127	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435993	0.80[ASN][1000 genomes]
rs12586560	0.97[ASN][1000 genomes]
rs12590445	0.92[ASN][1000 genomes]
rs12590759	0.99[ASN][1000 genomes]
rs12590776	0.99[ASN][1000 genomes]
rs12878099	0.80[ASN][1000 genomes]
rs12879146	0.97[ASN][1000 genomes]
rs12880698	0.87[ASN][1000 genomes]
rs12881338	0.97[ASN][1000 genomes]
rs12881530	0.95[ASN][1000 genomes]
rs12886970	0.95[ASN][1000 genomes]
rs12889224	0.97[ASN][1000 genomes]
rs12898009	0.97[ASN][1000 genomes]
rs34140630	0.97[ASN][1000 genomes]
rs34567686	0.97[ASN][1000 genomes]
rs35636868	0.97[ASN][1000 genomes]
rs4899664	0.97[ASN][1000 genomes]
rs4903620	0.99[ASN][1000 genomes]
rs56812919	0.83[ASN][1000 genomes]
rs67838524	0.97[ASN][1000 genomes]
rs71428789	0.97[ASN][1000 genomes]
rs7149026	1.00[ASN][1000 genomes]
rs7153483	0.83[ASN][1000 genomes]
rs7155602	0.82[ASN][1000 genomes]
rs8004037	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	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
rs4903619	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78103000-78107800	Weak transcription	HepG2	liver
2	chr14:78105200-78107800	Weak transcription	Placenta	Placenta
3	chr14:78105200-78108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:78105200-78108000	Weak transcription	HSMMtube	muscle
5	chr14:78105600-78108000	Weak transcription	HMEC	breast
6	chr14:78106400-78108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:78107200-78107800	Enhancers	Fetal Thymus	thymus
8	chr14:78107200-78107800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:78107400-78107800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr14:78107400-78107800	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:78107400-78107800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:78107400-78107800	Active TSS	Colonic Mucosa	Colon
13	chr14:78107400-78107800	Active TSS	Thymus	Thymus
14	chr14:78107400-78108000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:78107400-78108000	Enhancers	HUVEC	blood vessel
16	chr14:78107400-78108000	Flanking Active TSS	K562	blood
17	chr14:78107400-78108200	Enhancers	Small Intestine	intestine
18	chr14:78107400-78108800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr14:78107400-78109000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr14:78107400-78109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:78107400-78109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:78107600-78107800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:78107600-78107800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:78107600-78107800	Enhancers	Primary T cells from cord blood	blood
25	chr14:78107600-78107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:78107600-78107800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:78107600-78107800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:78107600-78107800	Enhancers	Brain Anterior Caudate	brain
29	chr14:78107600-78107800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:78107600-78107800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:78107600-78107800	Enhancers	Rectal Smooth Muscle	rectum
32	chr14:78107600-78107800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:78107600-78107800	Enhancers	Stomach Mucosa	stomach
34	chr14:78107600-78107800	Enhancers	NH-A	brain
35	chr14:78107600-78108000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:78107600-78108000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:78107600-78108000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:78107600-78108000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:78107600-78108000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:78107600-78108000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:78107600-78108000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:78107600-78108000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:78107600-78108000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:78107600-78108000	Enhancers	Fetal Intestine Large	intestine
45	chr14:78107600-78108000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr14:78107600-78108000	Enhancers	Fetal Stomach	stomach
47	chr14:78107600-78108000	Enhancers	Lung	lung
48	chr14:78107600-78108000	Enhancers	Psoas Muscle	Psoas
49	chr14:78107600-78108000	Enhancers	Right Atrium	heart
50	chr14:78107600-78108000	Enhancers	Sigmoid Colon	Sigmoid Colon

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