Variant report

Variant	rs12054904
Chromosome Location	chr5:36614345-36614346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36607368..36609529-chr5:36613052..36615679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16903193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2455253	1.00[JPT][hapmap]
rs2455254	1.00[JPT][hapmap]
rs2468531	1.00[JPT][hapmap]
rs3776564	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3822468	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs9790917	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608400-36615400	Weak transcription	HSMMtube	muscle
2	chr5:36608400-36617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:36608600-36617200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:36608800-36614800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
6	chr5:36609000-36614800	Weak transcription	NH-A	brain
7	chr5:36609200-36617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:36609400-36619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:36609400-36619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:36609800-36614400	Strong transcription	HMEC	breast
11	chr5:36610000-36617200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
13	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
14	chr5:36611200-36614600	Weak transcription	Psoas Muscle	Psoas
15	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
16	chr5:36611600-36614400	Strong transcription	Hela-S3	cervix
17	chr5:36611600-36615000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:36611800-36614800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:36612200-36614800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:36612200-36614800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:36612200-36623400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr5:36612400-36614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:36612400-36619200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:36612600-36616800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:36612800-36614400	Strong transcription	Osteobl	bone
26	chr5:36613000-36614400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
27	chr5:36613000-36615000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr5:36613200-36614800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:36613200-36618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:36613200-36620200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:36613400-36614800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:36613400-36615200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:36613400-36618800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:36613600-36614400	Weak transcription	Adipose Nuclei	Adipose
35	chr5:36613600-36614800	Weak transcription	Fetal Lung	lung
36	chr5:36613600-36615000	Genic enhancers	Brain Hippocampus Middle	brain
37	chr5:36613600-36615800	Enhancers	Left Ventricle	heart
38	chr5:36613600-36616000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:36613600-36617600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:36613600-36618200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:36613600-36618600	Weak transcription	NHEK	skin
42	chr5:36613600-36618800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:36613600-36619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:36613600-36624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:36613800-36614400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:36613800-36614600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:36613800-36614800	Enhancers	Brain Angular Gyrus	brain
48	chr5:36613800-36615000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:36613800-36615000	Weak transcription	Right Atrium	heart
50	chr5:36613800-36618200	Weak transcription	H1 Cell Line	embryonic stem cell

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