Variant report

Variant	rs3784310
Chromosome Location	chr15:72103427-72103428
allele	C/T
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	CTCF	chr15:72103420-72103570	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr15:72103340-72103490	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NR2E3	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1109744	0.82[YRI][hapmap]
rs11633167	0.89[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs11634608	0.89[CEU][hapmap]
rs12050794	0.86[AMR][1000 genomes]
rs12439494	0.83[CEU][hapmap]
rs12898728	0.80[AMR][1000 genomes]
rs12898868	0.84[AMR][1000 genomes]
rs16956369	0.86[AMR][1000 genomes]
rs2306576	0.89[CEU][hapmap];0.87[MEX][hapmap]
rs2415120	0.89[CEU][hapmap];0.87[MEX][hapmap]
rs2415126	0.81[AMR][1000 genomes]
rs2415128	0.83[CEU][hapmap];0.94[MEX][hapmap]
rs2929508	0.86[CEU][hapmap]
rs2929513	0.82[AMR][1000 genomes]
rs2957724	0.89[CEU][hapmap]
rs2957725	0.83[CEU][hapmap];0.94[MEX][hapmap]
rs2957734	0.88[CEU][hapmap];0.88[MEX][hapmap]
rs2957735	0.88[CEU][hapmap];0.87[MEX][hapmap]
rs2957737	0.83[CEU][hapmap];0.94[MEX][hapmap]
rs4511483	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62023343	0.81[AMR][1000 genomes]
rs6494973	0.89[ASW][hapmap];0.89[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs6494975	0.83[CEU][hapmap]
rs7173626	0.86[AMR][1000 genomes]
rs7177242	0.83[CEU][hapmap];0.94[MEX][hapmap]
rs7402085	0.82[YRI][hapmap]
rs7496582	0.89[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs7497104	0.88[CEU][hapmap]
rs8040216	0.86[CEU][hapmap]
rs8178	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs8557	0.94[CEU][hapmap];0.80[AMR][1000 genomes]
rs982752	0.83[CEU][hapmap];0.94[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv827383	chr15:72100044-72107239	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3784310	SENP8	cis	cerebellum	SCAN
rs3784310	MYO9A	Cis_1M	lymphoblastoid	RTeQTL
rs3784310	PARP6	cis	parietal	SCAN
rs3784310	TIPIN	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72096000-72105600	Enhancers	Fetal Muscle Leg	muscle
2	chr15:72098600-72104000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:72100400-72112000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:72100600-72104000	Weak transcription	Spleen	Spleen
5	chr15:72100600-72104400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:72100600-72104800	Weak transcription	Lung	lung
7	chr15:72100600-72111000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:72100600-72113800	Weak transcription	Fetal Lung	lung
9	chr15:72100800-72104800	Weak transcription	HSMMtube	muscle
10	chr15:72100800-72111400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:72101200-72105000	Weak transcription	Right Ventricle	heart
12	chr15:72101200-72112600	Weak transcription	Right Atrium	heart
13	chr15:72102200-72105200	Weak transcription	Fetal Heart	heart
14	chr15:72103000-72103600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr15:72103000-72107400	Weak transcription	Fetal Brain Female	brain
16	chr15:72103200-72105000	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:72103400-72103600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:72103400-72104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:72103400-72104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:72103400-72114000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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