Variant report

Variant	rs34415611
Chromosome Location	chr4:111007345-111007346
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	chr4:111006788..111007371-chr4:111132565..111133207,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11726328	0.88[AFR][1000 genomes]
rs11726685	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11726743	0.88[AFR][1000 genomes]
rs11726880	1.00[ASW][hapmap]
rs11726901	0.89[LWK][hapmap];0.85[MEX][hapmap]
rs11731118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11737840	0.95[CEU][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs1468220	0.95[CEU][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes]
rs56177130	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56211927	0.88[AFR][1000 genomes]
rs56217731	0.88[AFR][1000 genomes]
rs56338714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56964693	0.99[ASN][1000 genomes]
rs61041575	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325299	0.80[AMR][1000 genomes]
rs62325306	0.82[AMR][1000 genomes]
rs62325352	0.88[AFR][1000 genomes]
rs72679203	0.83[AFR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2762456	chr4:111006438-111007372	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34415611	EGF	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:110986200-111009400	Weak transcription	NHLF	lung
4	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
7	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:110995200-111008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:110998200-111007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:111004400-111009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:111004400-111009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
14	chr4:111004800-111009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:111005800-111009000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:111006000-111007400	Genic enhancers	K562	blood
17	chr4:111006000-111007600	Enhancers	Fetal Intestine Large	intestine
18	chr4:111006000-111007800	Enhancers	Stomach Mucosa	stomach
19	chr4:111006000-111008200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:111006000-111009600	Enhancers	Fetal Intestine Small	intestine
21	chr4:111006000-111010200	Enhancers	Small Intestine	intestine
22	chr4:111006000-111011400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:111006000-111013200	Enhancers	Dnd41	blood
24	chr4:111006000-111014000	Enhancers	HMEC	breast
25	chr4:111006200-111007800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:111006200-111009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:111006200-111009000	Enhancers	Hela-S3	cervix
28	chr4:111006200-111009200	Enhancers	Duodenum Mucosa	Duodenum
29	chr4:111006200-111009600	Enhancers	HUVEC	blood vessel
30	chr4:111006200-111009800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:111006200-111012200	Enhancers	NHEK	skin
32	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:111006200-111012400	Enhancers	Osteobl	bone
34	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:111006400-111008000	Enhancers	HSMM	muscle
36	chr4:111006400-111009000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:111006400-111009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:111006400-111010600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
40	chr4:111006600-111008000	Weak transcription	Brain Angular Gyrus	brain
41	chr4:111006600-111008000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:111006600-111008200	Weak transcription	Brain Anterior Caudate	brain
43	chr4:111006600-111008400	Weak transcription	Fetal Lung	lung
44	chr4:111006600-111009000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:111006600-111009200	Weak transcription	Fetal Thymus	thymus
46	chr4:111006600-111009600	Weak transcription	GM12878-XiMat	blood
47	chr4:111006600-111009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:111006600-111012200	Enhancers	NHDF-Ad	bronchial
49	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:111006800-111008200	Weak transcription	Fetal Heart	heart

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