Variant report

Variant	rs72703752
Chromosome Location	chr14:81849403-81849404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81847233..81850100-chr14:81861547..81864501,2	MCF-7	breast:
2	chr14:81847525..81850212-chr14:81854009..81856380,2	MCF-7	breast:
3	chr14:81848326..81851225-chr14:81856125..81857650,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1003258	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135926	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588572	0.83[ASN][1000 genomes]
rs1569012	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111790	0.83[ASN][1000 genomes]
rs2145123	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371596	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28476767	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825606	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3844533	0.81[ASN][1000 genomes]
rs3844534	0.81[ASN][1000 genomes]
rs3853419	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853420	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853421	0.82[ASN][1000 genomes]
rs3915222	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4110459	0.81[ASN][1000 genomes]
rs4110460	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4110462	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275784	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4290414	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4903982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574649	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574650	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574651	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153104	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153556	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153600	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160907	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72703760	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018198	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020806	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8022070	0.81[ASN][1000 genomes]
rs9652383	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
4	chr14:81835800-81851200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:81836400-81885800	Weak transcription	Gastric	stomach
6	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:81837600-81850200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81837600-81850800	Weak transcription	Esophagus	oesophagus
9	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81844800-81851000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:81847000-81851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:81847000-81851400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:81847000-81852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:81847200-81851200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:81847200-81855000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:81847200-81855200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:81847200-81856800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:81847400-81851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:81847800-81850000	Strong transcription	K562	blood
20	chr14:81848200-81850200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:81848400-81852000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:81848600-81850000	Enhancers	Brain Anterior Caudate	brain
23	chr14:81848800-81849600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:81848800-81849600	Flanking Active TSS	NHEK	skin
25	chr14:81848800-81850200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:81849000-81849800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:81849000-81850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81849200-81849600	Flanking Active TSS	HMEC	breast
29	chr14:81849400-81849600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:81849400-81849800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:81849400-81850200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:81849400-81853400	Enhancers	Fetal Kidney	kidney

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