Variant report

Variant	rs11606683
Chromosome Location	chr11:47302733-47302734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47290484..47293261-chr11:47300489..47303230,2	MCF-7	breast:
2	chr11:47301665..47304294-chr11:47428140..47430469,2	K562	blood:
3	chr11:47301179..47303619-chr11:47311417..47313779,2	K562	blood:
4	chr11:47268943..47270715-chr11:47300328..47303178,3	K562	blood:

Variant related genes	Relation type
ENSG00000025434	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10838696	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039138	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs11039139	0.89[ASN][1000 genomes]
rs11039149	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.83[ASN][1000 genomes]
rs11039159	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039162	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039165	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11039182	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11039183	1.00[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11606287	0.83[MEX][hapmap]
rs11988	0.84[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12802374	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2167080	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2596407	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2697923	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2856653	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7116451	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749067	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944419	0.94[ASN][1000 genomes]
rs7944584	0.83[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11606683	OR4B1	cis	cerebellum	SCAN
rs11606683	MADD	cis	parietal	SCAN
rs11606683	TP53I11	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47294800-47305800	Weak transcription	Stomach Mucosa	stomach
3	chr11:47294800-47310200	Weak transcription	Right Atrium	heart
4	chr11:47295000-47323600	Strong transcription	Dnd41	blood
5	chr11:47295200-47308800	Strong transcription	Osteobl	bone
6	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
8	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:47295400-47303800	Strong transcription	Liver	Liver
12	chr11:47295400-47303800	Strong transcription	HepG2	liver
13	chr11:47295400-47308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:47295400-47308400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:47295400-47308400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:47295400-47308600	Strong transcription	NHLF	lung
17	chr11:47295400-47318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:47295400-47318800	Strong transcription	Thymus	Thymus
19	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
22	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
27	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:47295600-47320200	Strong transcription	Fetal Intestine Large	intestine
33	chr11:47295600-47321200	Strong transcription	Brain Germinal Matrix	brain
34	chr11:47295600-47321800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:47295800-47315800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:47295800-47319600	Strong transcription	Fetal Intestine Small	intestine
43	chr11:47295800-47319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:47295800-47320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:47296000-47304000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:47296000-47308400	Strong transcription	GM12878-XiMat	blood

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