Variant report

Variant	rs7144602
Chromosome Location	chr14:55285588-55285589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55285206..55286227-chr9:135230196..135230918,3	HCT-116	colon:
2	chr14:55270899..55272684-chr14:55285548..55287241,2	MCF-7	breast:
3	chr14:55285226..55285728-chr9:135230026..135230604,2	MCF-7	breast:
4	chr14:55285434..55287072-chr14:55368100..55371088,2	MCF-7	breast:
5	chr14:55285207..55285727-chr9:135230113..135230803,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000107290	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131232	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10133650	0.95[YRI][hapmap]
rs10133662	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10133941	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10483639	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs11158024	0.91[YRI][hapmap]
rs11626298	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11848732	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587434	0.95[CHB][hapmap]
rs12589758	0.95[CHB][hapmap]
rs17127992	0.88[ASN][1000 genomes]
rs17128004	0.95[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2057368	0.84[ASN][1000 genomes]
rs2057369	0.84[ASN][1000 genomes]
rs2145945	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2149483	0.83[ASN][1000 genomes]
rs2183081	0.87[MKK][hapmap];0.95[YRI][hapmap]
rs2878168	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2878172	0.83[YRI][hapmap]
rs3783642	0.87[YRI][hapmap]
rs4411417	0.95[CHB][hapmap]
rs4462519	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55985131	0.88[ASN][1000 genomes]
rs67468157	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7141685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147286	0.87[YRI][hapmap]
rs7148266	0.85[ASN][1000 genomes]
rs7151058	0.92[ASN][1000 genomes]
rs7154323	0.88[ASN][1000 genomes]
rs7155309	0.95[CHB][hapmap]
rs72713453	0.88[ASN][1000 genomes]
rs72713456	0.88[ASN][1000 genomes]
rs752688	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs8007201	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8023187	0.82[YRI][hapmap]
rs841	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs9323272	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9671371	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9671455	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9671850	0.81[ASN][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv974465	chr14:55282030-55287312	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7144602	FBXO34	cis	cerebellum	SCAN
rs7144602	C2CD4B	trans	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55282200-55285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55284200-55286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:55284600-55285600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:55284600-55285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:55284600-55286000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55284600-55286000	Enhancers	Fetal Intestine Large	intestine
7	chr14:55284600-55286600	Enhancers	Fetal Intestine Small	intestine
8	chr14:55284800-55285600	Enhancers	HSMMtube	muscle
9	chr14:55284800-55285800	Enhancers	Brain Germinal Matrix	brain
10	chr14:55285000-55285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:55285000-55285800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:55285000-55285800	Flanking Active TSS	Osteobl	bone
13	chr14:55285000-55286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:55285000-55286000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:55285000-55286000	Flanking Active TSS	Hela-S3	cervix
16	chr14:55285200-55285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:55285200-55285600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:55285200-55285600	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr14:55285200-55285800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:55285200-55285800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:55285200-55285800	Active TSS	Stomach Smooth Muscle	stomach
22	chr14:55285200-55285800	Enhancers	NHDF-Ad	bronchial
23	chr14:55285200-55286000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:55285200-55286000	Enhancers	HSMM	muscle
25	chr14:55285200-55286000	Enhancers	NH-A	brain
26	chr14:55285200-55288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:55285400-55285600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:55285400-55288800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:55285400-55290000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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