Variant report

Variant	rs3803360
Chromosome Location	chr15:40662669-40662670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40603175..40604974-chr15:40662055..40664478,2	K562	blood:
2	chr15:40658920..40662804-chr15:40663316..40668232,4	MCF-7	breast:
3	chr15:40661338..40663976-chr15:40666314..40668702,2	MCF-7	breast:
4	chr15:40531230..40534139-chr15:40662360..40663860,2	MCF-7	breast:
5	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:

Variant related genes	Relation type
ENSG00000259714	Chromatin interaction
ENSG00000128944	Chromatin interaction
ENSG00000261374	Chromatin interaction
ENSG00000259198	Chromatin interaction
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs11634187	0.88[EUR][1000 genomes]
rs11636147	0.88[EUR][1000 genomes]
rs12905240	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12913300	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16970633	0.87[EUR][1000 genomes]
rs2289328	0.91[EUR][1000 genomes]
rs35565646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777573	0.88[EUR][1000 genomes]
rs3803359	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221586	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71472433	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7164581	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7164606	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3803360	DISP2	cis	Esophagus Muscularis	GTEx
rs3803360	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs3803360	DISP2	cis	Muscle Skeletal	GTEx
rs3803360	DISP2	cis	Esophagus Mucosa	GTEx
rs3803360	RP11-64K12.4	cis	Esophagus Mucosa	GTEx
rs3803360	DISP2	cis	Adipose Subcutaneous	GTEx
rs3803360	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx
rs3803360	DISP2	cis	lung	GTEx
rs3803360	DISP2	cis	Nerve Tibial	GTEx
rs3803360	DISP2	cis	Skin Sun Exposed Lower leg	GTEx
rs3803360	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660600-40663400	Enhancers	Fetal Muscle Leg	muscle
2	chr15:40660800-40663600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:40660800-40663600	Weak transcription	Fetal Intestine Small	intestine
4	chr15:40660800-40664000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:40660800-40664400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:40660800-40664600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:40660800-40664600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:40660800-40664600	Weak transcription	HUVEC	blood vessel
9	chr15:40660800-40664600	Weak transcription	Osteobl	bone
10	chr15:40660800-40664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:40660800-40665200	Strong transcription	Fetal Brain Female	brain
12	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
13	chr15:40661000-40664800	Weak transcription	Adipose Nuclei	Adipose
14	chr15:40661000-40669600	Weak transcription	HSMM	muscle
15	chr15:40661000-40671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:40661200-40663200	Strong transcription	Brain Germinal Matrix	brain
17	chr15:40661200-40664800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
19	chr15:40661400-40665000	Weak transcription	HSMMtube	muscle
20	chr15:40661600-40664600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:40662200-40662800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:40662200-40662800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr15:40662200-40663600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:40662200-40663800	Enhancers	Right Ventricle	heart
26	chr15:40662400-40664800	Weak transcription	Spleen	Spleen
27	chr15:40662600-40663000	Enhancers	Fetal Muscle Trunk	muscle
28	chr15:40662600-40665000	Weak transcription	Placenta	Placenta

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