Variant report

Variant	rs72643753
Chromosome Location	chr5:5458369-5458370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5457336..5459419-chr5:5464980..5466965,2	MCF-7	breast:
2	chr5:5429159..5430759-chr5:5456085..5458888,2	MCF-7	breast:
3	chr5:5450771..5453306-chr5:5456043..5458532,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12659887	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60016681	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60221804	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62000446	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72643751	0.93[EUR][1000 genomes]
rs72643752	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72643754	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747515	1.00[EUR][1000 genomes];0.89[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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5430800-5460800	Weak transcription	Fetal Heart	heart
3	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:5434000-5460000	Weak transcription	Psoas Muscle	Psoas
5	chr5:5436600-5468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:5436600-5470600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:5436600-5471400	Strong transcription	Hela-S3	cervix
8	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:5436800-5470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:5436800-5470600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:5437200-5470600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:5437400-5470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:5437600-5470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:5437800-5470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:5439600-5470600	Strong transcription	Dnd41	blood
18	chr5:5440000-5470600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:5440800-5460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:5440800-5471600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:5441200-5468800	Strong transcription	Liver	Liver
22	chr5:5441400-5468400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:5441400-5468800	Strong transcription	Adipose Nuclei	Adipose
24	chr5:5441400-5469000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:5441400-5470400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:5441600-5459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:5441600-5465200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:5441600-5468800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:5441600-5469000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:5441600-5470600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:5442400-5475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:5446600-5458400	Weak transcription	Esophagus	oesophagus
33	chr5:5446600-5458400	Weak transcription	Gastric	stomach
34	chr5:5446800-5467000	Strong transcription	NH-A	brain
35	chr5:5448800-5470400	Strong transcription	Primary B cells from cord blood	blood
36	chr5:5449800-5461000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:5451800-5467400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr5:5452600-5468400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:5452600-5472000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:5452800-5464000	Strong transcription	HUVEC	blood vessel
41	chr5:5453000-5464800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:5453000-5467600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:5453000-5467600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:5453200-5463200	Strong transcription	Colon Smooth Muscle	Colon
45	chr5:5453200-5465200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:5453200-5468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:5453200-5468400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:5453200-5468400	Strong transcription	Fetal Muscle Leg	muscle
49	chr5:5453200-5470400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:5453400-5462800	Strong transcription	K562	blood

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