Variant report

Variant	rs7760807
Chromosome Location	chr6:38274248-38274249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38269604..38272894-chr6:38272996..38276303,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs228181	0.91[EUR][1000 genomes]
rs228182	0.91[EUR][1000 genomes]
rs228184	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs228185	0.91[EUR][1000 genomes]
rs228187	0.91[EUR][1000 genomes]
rs4711533	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714140	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4714144	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6905637	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6922620	0.87[EUR][1000 genomes]
rs9349067	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9470856	0.92[AMR][1000 genomes];0.94[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7760807	SPTLC3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38249200-38275600	Weak transcription	Fetal Brain Male	brain
2	chr6:38270200-38275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:38270800-38275600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:38271000-38275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:38271200-38275600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:38271400-38274600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:38273400-38275800	Enhancers	Psoas Muscle	Psoas
8	chr6:38273400-38276200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:38273600-38274800	Enhancers	Fetal Brain Female	brain
10	chr6:38273600-38276200	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:38273800-38274800	Enhancers	NHDF-Ad	bronchial
12	chr6:38273800-38275000	Enhancers	Liver	Liver
13	chr6:38273800-38275800	Enhancers	Fetal Muscle Leg	muscle
14	chr6:38273800-38276000	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:38273800-38276000	Enhancers	Brain Hippocampus Middle	brain
16	chr6:38273800-38276000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:38273800-38276200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:38273800-38276200	Enhancers	Brain Anterior Caudate	brain
19	chr6:38273800-38276800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:38274000-38274400	Enhancers	Right Atrium	heart
21	chr6:38274000-38274600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:38274000-38274800	Enhancers	NHLF	lung
23	chr6:38274000-38275000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:38274000-38275400	Enhancers	Right Ventricle	heart
25	chr6:38274000-38275800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:38274000-38275800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:38274000-38276000	Enhancers	Fetal Stomach	stomach
28	chr6:38274000-38276200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:38274000-38276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:38274000-38276200	Enhancers	Fetal Lung	lung
31	chr6:38274000-38276800	Enhancers	Dnd41	blood
32	chr6:38274200-38274800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:38274200-38275800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:38274200-38276000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:38274200-38276200	Enhancers	Primary B cells from cord blood	blood
36	chr6:38274200-38276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:38274200-38276200	Enhancers	HSMMtube	muscle

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