Variant report

Variant	rs4592615
Chromosome Location	chr15:77581678-77581679
allele	A/G
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	CEBPB	chr15:77581561-77581805	A549	lung:	n/a	chr15:77581652-77581663 chr15:77581652-77581665 chr15:77581652-77581665
2	CEBPB	chr15:77581543-77581794	HepG2	liver:	n/a	chr15:77581652-77581663 chr15:77581652-77581665 chr15:77581652-77581665
3	CEBPB	chr15:77581534-77581794	IMR90	lung:	n/a	chr15:77581652-77581663 chr15:77581652-77581665 chr15:77581652-77581665
4	CEBPB	chr15:77581603-77581739	K562	blood:	n/a	chr15:77581652-77581663 chr15:77581652-77581665 chr15:77581652-77581665

No.	Distal block	Cell Line	Cell type
1	chr15:77571666..77575195-chr15:77579317..77581859,3	K562	blood:
2	chr15:77573695..77576435-chr15:77580239..77581887,3	K562	blood:
3	chr15:77580009..77582319-chr15:77583158..77585492,2	K562	blood:

Variant related genes	Relation type
PEAK1	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1015813	0.82[ASN][1000 genomes]
rs10519158	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs11854466	0.93[ASN][1000 genomes]
rs11856084	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs11856513	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11856538	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs11857330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148274	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12324016	0.83[ASN][1000 genomes]
rs12324211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap]
rs12324366	0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs12324795	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs12900110	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902106	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902434	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902446	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12912084	0.81[ASN][1000 genomes]
rs12912963	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13380152	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1374201	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1446313	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1493699	0.83[ASN][1000 genomes]
rs16968730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16968799	0.83[ASN][1000 genomes]
rs17381652	0.96[CEU][hapmap]
rs17381821	0.88[JPT][hapmap]
rs17385296	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs17466480	0.83[EUR][1000 genomes]
rs17468413	0.83[ASN][1000 genomes]
rs17471480	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs17471697	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs1867780	0.88[JPT][hapmap]
rs2044453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2137977	0.93[ASN][1000 genomes]
rs2172587	0.83[ASN][1000 genomes]
rs2292594	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2307141	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2864840	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs34572155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35651077	0.83[ASN][1000 genomes]
rs3784788	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs4886514	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4886852	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs4886857	0.93[ASN][1000 genomes]
rs4886863	0.81[ASN][1000 genomes]
rs56070388	0.85[ASN][1000 genomes]
rs58792939	0.85[ASN][1000 genomes]
rs60079927	0.93[ASN][1000 genomes]
rs60761381	0.82[ASN][1000 genomes]
rs62010566	0.83[ASN][1000 genomes]
rs7163620	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182221	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs74025104	0.85[ASN][1000 genomes]
rs74025105	0.93[ASN][1000 genomes]
rs7496431	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs907398	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs9806326	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1044270	chr15:77534919-77611256	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542445	chr15:77534919-77611256	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4592615	TSPAN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77541800-77589800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:77544600-77589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:77559800-77585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:77562200-77589600	Weak transcription	Primary T cells from cord blood	blood
5	chr15:77571800-77585600	Weak transcription	Right Ventricle	heart
6	chr15:77572000-77582000	Weak transcription	Left Ventricle	heart
7	chr15:77573600-77589400	Weak transcription	Fetal Stomach	stomach
8	chr15:77574600-77585200	Weak transcription	Psoas Muscle	Psoas
9	chr15:77575000-77585400	Weak transcription	NH-A	brain
10	chr15:77575400-77586000	Weak transcription	HepG2	liver
11	chr15:77576400-77583200	Weak transcription	Fetal Heart	heart
12	chr15:77577200-77619400	Weak transcription	HSMM	muscle
13	chr15:77577800-77587200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:77577800-77590000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:77578000-77583600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:77578000-77584800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:77578800-77582400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:77580200-77587800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:77580200-77587800	Weak transcription	NHLF	lung
20	chr15:77580600-77585200	Weak transcription	Osteobl	bone
21	chr15:77580600-77585400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:77580800-77587400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:77580800-77592400	Weak transcription	NHDF-Ad	bronchial
24	chr15:77581000-77581800	Weak transcription	Adipose Nuclei	Adipose

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