Variant report

Variant	rs4454046
Chromosome Location	chr5:112456726-112456727
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	chr5:112455253..112458185-chr5:112461323..112464102,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11952087	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955830	1.00[TSI][hapmap]
rs35555142	0.83[EUR][1000 genomes]
rs4235792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259163	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4458560	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4527591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4582268	1.00[EUR][1000 genomes]
rs4705541	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705781	0.89[ASW][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs62374708	1.00[EUR][1000 genomes]
rs62374709	1.00[EUR][1000 genomes]
rs62374711	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594684	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594688	0.83[AFR][1000 genomes]
rs6594689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872711	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237129	1.00[EUR][1000 genomes]
rs7703001	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:112450000-112459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:112451000-112460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
6	chr5:112452600-112456800	Enhancers	Fetal Stomach	stomach
7	chr5:112452800-112457200	Enhancers	Left Ventricle	heart
8	chr5:112453600-112457200	Enhancers	Right Atrium	heart
9	chr5:112453800-112461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:112454200-112457600	Enhancers	Liver	Liver
11	chr5:112454600-112457200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112454600-112459000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:112454600-112459400	Enhancers	NHDF-Ad	bronchial
14	chr5:112454600-112460600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:112454800-112460400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:112454800-112460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:112455000-112460000	Weak transcription	Fetal Brain Male	brain
18	chr5:112455000-112462200	Enhancers	Fetal Heart	heart
19	chr5:112455200-112459200	Weak transcription	Pancreas	Pancrea
20	chr5:112455200-112459400	Weak transcription	Brain Germinal Matrix	brain
21	chr5:112455200-112459400	Weak transcription	Fetal Brain Female	brain
22	chr5:112455400-112458000	Weak transcription	NHLF	lung
23	chr5:112455400-112458400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:112455400-112459200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:112455400-112459200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:112455400-112459600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:112455400-112460200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:112455400-112461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112455400-112461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112455600-112456800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112455600-112456800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112455600-112457400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:112455600-112457400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:112455600-112457400	Weak transcription	Adipose Nuclei	Adipose
35	chr5:112455600-112458200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112455600-112460000	Weak transcription	Fetal Lung	lung
37	chr5:112455800-112457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112455800-112457400	Weak transcription	Osteobl	bone
39	chr5:112456000-112457000	Weak transcription	Psoas Muscle	Psoas
40	chr5:112456000-112457000	Weak transcription	NHEK	skin
41	chr5:112456000-112458200	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:112456200-112457200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:112456200-112458600	Enhancers	HMEC	breast
44	chr5:112456200-112459200	Weak transcription	Right Ventricle	heart
45	chr5:112456200-112459400	Weak transcription	Fetal Kidney	kidney
46	chr5:112456200-112459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:112456400-112456800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:112456600-112456800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:112456600-112457200	Enhancers	Ovary	ovary
50	chr5:112456600-112459000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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