Variant report

Variant	rs3781902
Chromosome Location	chr11:57120047-57120048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57110145..57111927-chr11:57119276..57121800,2	K562	blood:
2	chr11:57118779..57121066-chr11:57192252..57194028,2	K562	blood:
3	chr11:57119644..57122336-chr11:57124896..57127727,2	K562	blood:
4	chr11:57119177..57122088-chr11:57123742..57126418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134802	Chromatin interaction
ENSG00000266018	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10732882	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10736683	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792085	0.81[CHD][hapmap]
rs10896602	0.81[CHD][hapmap]
rs10896610	0.89[ASN][1000 genomes]
rs1837974	0.91[ASN][1000 genomes]
rs2003065	0.91[ASN][1000 genomes]
rs2013314	0.86[JPT][hapmap];0.87[MKK][hapmap]
rs2276039	0.86[JPT][hapmap];0.83[MKK][hapmap]
rs2276040	0.86[JPT][hapmap]
rs2276042	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.84[MKK][hapmap];0.89[ASN][1000 genomes]
rs3781899	0.86[JPT][hapmap]
rs3781901	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570598	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4939138	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4939140	0.86[JPT][hapmap];0.88[MKK][hapmap]
rs4939141	0.86[JPT][hapmap]
rs55637147	0.81[ASN][1000 genomes]
rs56077100	0.91[ASN][1000 genomes]
rs879646	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs894450	0.86[JPT][hapmap];0.86[MKK][hapmap]
rs9667065	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3781902	OR5B12	cis	parietal	SCAN
rs3781902	OR5AN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57117400-57120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:57117400-57120400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57117400-57120400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:57117400-57120400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:57117400-57120600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:57117400-57120800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:57117400-57122000	Weak transcription	Pancreas	Pancrea
8	chr11:57117600-57122000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:57117600-57126400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57117600-57140000	Weak transcription	Right Atrium	heart
11	chr11:57117800-57120200	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:57117800-57120600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:57117800-57120800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:57117800-57121000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:57117800-57122000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:57117800-57122000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:57118400-57120400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:57119400-57123600	Weak transcription	A549	lung
19	chr11:57119800-57124800	Enhancers	Fetal Brain Male	brain
20	chr11:57120000-57121000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:57120000-57121600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:57120000-57121600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:57120000-57126600	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:57120000-57126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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