Variant report

Variant	rs4864809
Chromosome Location	chr4:54511913-54511914
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	chr4:54510430..54512515-chr4:54515785..54518335,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10005578	0.92[ASN][1000 genomes]
rs10006267	0.92[ASN][1000 genomes]
rs10010205	0.92[ASN][1000 genomes]
rs10021678	0.90[ASN][1000 genomes]
rs10027185	1.00[ASN][1000 genomes]
rs10027544	0.99[ASN][1000 genomes]
rs10031525	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10031866	0.94[ASN][1000 genomes]
rs1039985	0.86[ASN][1000 genomes]
rs12645402	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13146347	0.97[ASN][1000 genomes]
rs13148245	0.92[ASN][1000 genomes]
rs1477878	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477880	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083218	0.92[ASN][1000 genomes]
rs17083272	0.87[ASN][1000 genomes]
rs17083277	0.86[ASN][1000 genomes]
rs1991972	0.97[ASN][1000 genomes]
rs1991973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2086048	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219742	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3942650	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554120	0.98[ASN][1000 genomes]
rs6554121	1.00[ASN][1000 genomes]
rs6816209	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818959	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822736	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6843799	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6849381	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6858782	0.98[ASN][1000 genomes]
rs750695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688605	0.97[ASN][1000 genomes]

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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4864809	FIP1L1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54507800-54517000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:54507800-54520600	Weak transcription	Gastric	stomach
3	chr4:54508000-54512600	Weak transcription	Adipose Nuclei	Adipose
4	chr4:54508000-54519200	Weak transcription	Fetal Heart	heart
5	chr4:54509800-54512000	Enhancers	Fetal Intestine Large	intestine
6	chr4:54509800-54512200	Enhancers	Fetal Intestine Small	intestine
7	chr4:54509800-54513400	Enhancers	Pancreas	Pancrea
8	chr4:54510400-54512000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:54510400-54513400	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:54510800-54512600	Enhancers	Psoas Muscle	Psoas
11	chr4:54511000-54512000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:54511000-54513600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:54511400-54512600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr4:54511400-54513000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:54511400-54513600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:54511400-54513800	Enhancers	Stomach Mucosa	stomach
17	chr4:54511400-54514000	Enhancers	Small Intestine	intestine
18	chr4:54511400-54515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:54511400-54515800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:54511400-54517200	Weak transcription	NHEK	skin
21	chr4:54511400-54520600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:54511600-54512400	Weak transcription	Colonic Mucosa	Colon
23	chr4:54511600-54514800	Weak transcription	Left Ventricle	heart
24	chr4:54511600-54515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:54511600-54515600	Weak transcription	Esophagus	oesophagus
26	chr4:54511600-54517400	Weak transcription	Lung	lung
27	chr4:54511600-54518800	Weak transcription	Liver	Liver
28	chr4:54511800-54512800	Weak transcription	HMEC	breast
29	chr4:54511800-54513000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:54511800-54515800	Weak transcription	Placenta	Placenta
31	chr4:54511800-54515800	Weak transcription	Right Atrium	heart
32	chr4:54511800-54516000	Weak transcription	Right Ventricle	heart
33	chr4:54511800-54518400	Weak transcription	GM12878-XiMat	blood

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