Variant report

Variant	rs72703746
Chromosome Location	chr14:81847550-81847551
allele	G/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	chr14:81684359..81686133-chr14:81846262..81848030,2	K562	blood:
3	chr14:81847525..81850212-chr14:81854009..81856380,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1570007	0.87[EUR][1000 genomes]
rs56201423	0.87[EUR][1000 genomes]
rs72689300	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72689301	0.87[EUR][1000 genomes]
rs72689302	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691404	0.81[EUR][1000 genomes]
rs72691409	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72701731	0.87[EUR][1000 genomes]
rs72701732	0.87[EUR][1000 genomes]
rs72701735	0.87[EUR][1000 genomes]
rs72701736	0.87[EUR][1000 genomes]
rs72701738	0.87[EUR][1000 genomes]
rs72701745	0.87[EUR][1000 genomes]
rs72701746	0.87[EUR][1000 genomes]
rs72703710	0.87[EUR][1000 genomes]
rs72703718	0.87[EUR][1000 genomes]
rs72703719	0.87[EUR][1000 genomes]
rs72703724	0.87[EUR][1000 genomes]
rs72703731	0.87[EUR][1000 genomes]
rs72703734	0.87[EUR][1000 genomes]
rs72703736	0.87[EUR][1000 genomes]
rs72703737	0.87[EUR][1000 genomes]
rs72703743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72703756	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72703758	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72703762	0.87[EUR][1000 genomes]
rs72703764	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9944042	0.80[AFR][1000 genomes]
rs9944060	0.80[AFR][1000 genomes]
rs9944062	0.80[AFR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
2	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
5	chr14:81835800-81851200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:81836400-81885800	Weak transcription	Gastric	stomach
7	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:81837200-81847800	Weak transcription	K562	blood
9	chr14:81837600-81849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:81837600-81850200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:81837600-81850800	Weak transcription	Esophagus	oesophagus
12	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:81838400-81847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81839600-81848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:81844000-81848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:81844800-81851000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:81847000-81851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:81847000-81851400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:81847000-81852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:81847200-81851200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:81847200-81855000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:81847200-81855200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:81847200-81856800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81847400-81847800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:81847400-81851000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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