Variant report

Variant	rs2294697
Chromosome Location	chr6:56235411-56235412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56234551..56238270-chr6:56238885..56242928,5	MCF-7	breast:
2	chr6:56233618..56238024-chr6:56405386..56408602,4	MCF-7	breast:
3	chr6:56235077..56236646-chr6:56284091..56285833,2	MCF-7	breast:
4	chr6:56234525..56235479-chr6:56413389..56414430,8	MCF-7	breast:
5	chr6:56234569..56235702-chr6:56282589..56283337,3	MCF-7	breast:
6	chr6:56233543..56236471-chr6:56278322..56281271,2	MCF-7	breast:
7	chr6:56226560..56229284-chr6:56234863..56237293,2	MCF-7	breast:
8	chr6:56233493..56236499-chr6:56300077..56302694,3	MCF-7	breast:
9	chr6:56234561..56235796-chr6:56282457..56283322,3	MCF-7	breast:
10	chr6:56234903..56235822-chr6:56379977..56380797,2	MCF-7	breast:
11	chr6:56227775..56231675-chr6:56232771..56236094,3	K562	blood:
12	chr6:56235330..56236850-chr6:56405748..56408318,2	K562	blood:
13	chr6:56234937..56235452-chr6:56457486..56458082,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11751569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759493	0.82[YRI][hapmap]
rs12110833	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs13218268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220153	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs16887812	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs2206533	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs2397220	0.82[CHB][hapmap]
rs2397221	0.83[MKK][hapmap];1.00[YRI][hapmap]
rs35615447	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143828	0.82[YRI][hapmap]
rs4715630	0.82[YRI][hapmap]
rs595238	0.90[YRI][hapmap]
rs62412411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636389	0.83[MKK][hapmap];0.90[YRI][hapmap]
rs6459157	0.87[CHB][hapmap]
rs6911502	0.90[YRI][hapmap]
rs6915291	0.82[CHB][hapmap]
rs6915564	0.90[YRI][hapmap]
rs6920964	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741295	0.82[YRI][hapmap]
rs7762629	0.82[YRI][hapmap]
rs7764788	0.87[CHB][hapmap]
rs7770594	0.87[CHB][hapmap]
rs7775847	1.00[YRI][hapmap]
rs9464383	0.87[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2294697	FBXO9	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56229200-56236200	Weak transcription	Left Ventricle	heart
2	chr6:56229600-56237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:56231000-56238000	Enhancers	Adipose Nuclei	Adipose
4	chr6:56231000-56238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:56231200-56235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:56232400-56236800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:56232800-56236000	Weak transcription	Spleen	Spleen
8	chr6:56232800-56236200	Weak transcription	Lung	lung
9	chr6:56233200-56236400	Enhancers	Colon Smooth Muscle	Colon
10	chr6:56233600-56237200	Weak transcription	Ovary	ovary
11	chr6:56234400-56235600	Flanking Active TSS	NHEK	skin
12	chr6:56234400-56236800	Enhancers	Liver	Liver
13	chr6:56234600-56235800	Flanking Active TSS	HMEC	breast
14	chr6:56234600-56236000	Flanking Active TSS	HUVEC	blood vessel
15	chr6:56234600-56236200	Enhancers	Fetal Kidney	kidney
16	chr6:56234600-56237400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:56234800-56235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:56234800-56235600	Enhancers	Placenta	Placenta
19	chr6:56234800-56235600	Flanking Active TSS	HepG2	liver
20	chr6:56234800-56236000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:56234800-56236000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:56234800-56236400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:56234800-56236400	Enhancers	Brain Hippocampus Middle	brain
24	chr6:56234800-56236600	Enhancers	Osteobl	bone
25	chr6:56234800-56237400	Enhancers	Stomach Mucosa	stomach
26	chr6:56234800-56237800	Enhancers	Fetal Intestine Large	intestine
27	chr6:56234800-56238000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:56234800-56238000	Enhancers	Fetal Muscle Leg	muscle
29	chr6:56234800-56238000	Enhancers	Fetal Stomach	stomach
30	chr6:56235000-56235600	Enhancers	Right Atrium	heart
31	chr6:56235000-56235600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:56235000-56235800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:56235000-56236000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:56235000-56236000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:56235000-56236000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:56235000-56236200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:56235000-56236200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:56235000-56236400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:56235000-56236400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:56235000-56236400	Enhancers	Brain Anterior Caudate	brain
41	chr6:56235000-56236400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:56235000-56236400	Enhancers	HSMMtube	muscle
43	chr6:56235000-56236600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:56235000-56236800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:56235000-56237000	Enhancers	NHLF	lung
46	chr6:56235000-56237200	Enhancers	Right Ventricle	heart
47	chr6:56235000-56237400	Enhancers	Fetal Intestine Small	intestine
48	chr6:56235000-56237400	Enhancers	A549	lung
49	chr6:56235000-56238000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:56235000-56238000	Enhancers	Fetal Lung	lung

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