Variant report

Variant	rs8040227
Chromosome Location	chr15:77860085-77860086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:77859549-77860131	NB4	blood:	n/a	chr15:77859757-77859767

Variant related genes	Relation type
ENSG00000259420	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1104815	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11630235	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11630856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11635834	0.98[ASN][1000 genomes]
rs12593629	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2003883	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2667757	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886517	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4886879	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886880	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7170855	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868298	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs964990	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv570139	chr15:77762493-77865459	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8040227	TSPAN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77855600-77862600	Enhancers	Brain Cingulate Gyrus	brain
2	chr15:77856400-77860400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:77857200-77862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:77857400-77862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:77857600-77860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:77857600-77860800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:77857800-77860200	Weak transcription	Brain Substantia Nigra	brain
8	chr15:77858200-77860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:77858400-77860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:77858400-77860600	Weak transcription	Fetal Brain Male	brain
11	chr15:77858600-77860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:77858800-77861000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:77858800-77861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:77859000-77860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:77859000-77860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:77859000-77860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:77859000-77862400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:77859200-77860800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:77859200-77862000	Enhancers	Brain Anterior Caudate	brain
20	chr15:77859200-77862200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:77859400-77860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:77859400-77860200	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:77859400-77862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:77859600-77861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:77859600-77862200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:77859800-77860200	Weak transcription	Brain Angular Gyrus	brain
27	chr15:77859800-77861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:77859800-77861400	Enhancers	Fetal Brain Female	brain
29	chr15:77860000-77860200	Enhancers	HepG2	liver
30	chr15:77860000-77861400	Enhancers	Fetal Lung	lung
31	chr15:77860000-77861600	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:77860000-77862600	Enhancers	Fetal Stomach	stomach
33	chr15:77860000-77862800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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