Variant report

Variant	rs4869486
Chromosome Location	chr5:36619731-36619732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36614403..36616271-chr5:36619244..36622232,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10941306	0.80[CEU][hapmap]
rs11954014	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518875	0.82[ASN][1000 genomes]
rs12659371	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166160	0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1366632	0.81[ASW][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1864213	0.84[CEU][hapmap]
rs1864214	0.84[CEU][hapmap]
rs2033267	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2115522	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34789636	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366597	0.80[JPT][hapmap]
rs3776569	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4869677	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4869486	FYB	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36609400-36619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
4	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
5	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
6	chr5:36612200-36623400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:36613200-36620200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:36613600-36624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:36614000-36624000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:36614000-36629600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:36614800-36621400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:36615000-36624000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:36615000-36629600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:36615200-36621800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:36615200-36624200	Weak transcription	HSMM	muscle
16	chr5:36615200-36627600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:36615400-36621800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:36615400-36630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:36615400-36630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:36615800-36629800	Weak transcription	Placenta	Placenta
21	chr5:36616000-36624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:36616400-36620800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:36616800-36620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
25	chr5:36617000-36620800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:36617200-36620800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:36617800-36620600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:36618000-36620600	Enhancers	Brain Hippocampus Middle	brain
29	chr5:36618200-36629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:36618400-36621600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:36618600-36619800	Enhancers	HMEC	breast
32	chr5:36618600-36619800	Enhancers	NHEK	skin
33	chr5:36618600-36621400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:36618800-36619800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:36618800-36624000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:36619200-36620200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:36619200-36620400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:36619200-36620600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:36619200-36629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:36619400-36620400	Weak transcription	Fetal Heart	heart
41	chr5:36619400-36620600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:36619400-36621800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:36619400-36629200	Weak transcription	Hela-S3	cervix
44	chr5:36619600-36619800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:36619600-36620000	Weak transcription	Brain Anterior Caudate	brain
46	chr5:36619600-36620600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:36619600-36620600	Weak transcription	Left Ventricle	heart
48	chr5:36619600-36620800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:36619600-36621800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:36619600-36627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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