Variant report

Variant	rs62289343
Chromosome Location	chr4:15486169-15486170
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	chr4:15300680..15303495-chr4:15484147..15486519,2	K562	blood:
2	chr4:15484757..15487117-chr4:15489258..15491846,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11724613	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55931907	1.00[AFR][1000 genomes]
rs62289303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62290592	1.00[AFR][1000 genomes]
rs73230952	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
2	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
3	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
4	chr4:15481600-15498600	Weak transcription	Liver	Liver
5	chr4:15481600-15519000	Weak transcription	Gastric	stomach
6	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:15482000-15486400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:15482000-15486600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:15482000-15487000	Weak transcription	HSMM	muscle
10	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
12	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:15482200-15486200	Strong transcription	Fetal Stomach	stomach
15	chr4:15482200-15486400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:15482200-15486600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:15482200-15490400	Weak transcription	A549	lung
19	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:15482400-15486200	Strong transcription	Left Ventricle	heart
21	chr4:15482400-15486800	Weak transcription	Fetal Brain Male	brain
22	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:15482600-15486400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:15482600-15486600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr4:15482600-15486800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:15482600-15487400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:15482600-15487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:15482600-15487600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
30	chr4:15482600-15526400	Weak transcription	HMEC	breast
31	chr4:15482800-15489600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:15483000-15490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:15483200-15486600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:15483200-15487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:15483400-15486400	Strong transcription	Fetal Muscle Leg	muscle
37	chr4:15483600-15486600	Weak transcription	Fetal Kidney	kidney
38	chr4:15483600-15493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:15483800-15486600	Weak transcription	Adipose Nuclei	Adipose
41	chr4:15484000-15486200	Strong transcription	Aorta	Aorta
42	chr4:15484600-15486200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:15484600-15486600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:15484800-15486400	Weak transcription	Brain Germinal Matrix	brain
45	chr4:15484800-15486800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:15484800-15490000	Weak transcription	Osteobl	bone
47	chr4:15485000-15486400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:15485000-15486400	Weak transcription	Fetal Brain Female	brain
49	chr4:15485000-15486800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:15485000-15487800	Weak transcription	Brain Hippocampus Middle	brain

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