Variant report

Variant	rs28572628
Chromosome Location	chr14:64480430-64480431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64479160..64481857-chr14:64484574..64486419,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10140978	0.84[ASN][1000 genomes]
rs10146667	0.83[ASN][1000 genomes]
rs10151127	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11844088	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11844628	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255965	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586503	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262241	0.84[ASN][1000 genomes]
rs1890907	0.83[ASN][1000 genomes]
rs2153477	0.83[ASN][1000 genomes]
rs2153478	0.83[ASN][1000 genomes]
rs2153481	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609254	0.90[EUR][1000 genomes]
rs3866737	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4027405	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275767	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4462521	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899131	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573542	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573544	0.84[ASN][1000 genomes]
rs7144722	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147157	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153376	0.84[ASN][1000 genomes]
rs7157594	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
6	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
8	chr14:64459600-64481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:64460000-64481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
11	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
13	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain
14	chr14:64464000-64488600	Weak transcription	HUVEC	blood vessel
15	chr14:64466400-64490600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:64466600-64490400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:64466600-64513200	Weak transcription	NHEK	skin
18	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:64468000-64480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64468400-64482200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:64469200-64488000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:64469600-64518400	Weak transcription	HMEC	breast
24	chr14:64470000-64490600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:64470200-64488000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:64470400-64481000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:64470400-64481000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:64470400-64484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:64470600-64487600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:64470800-64481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64471800-64481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:64471800-64487000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:64471800-64488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:64471800-64489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:64471800-64490800	Weak transcription	Spleen	Spleen
36	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:64472000-64484200	Weak transcription	Fetal Kidney	kidney
38	chr14:64472000-64485400	Weak transcription	Primary B cells from cord blood	blood
39	chr14:64472200-64488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
41	chr14:64474200-64484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:64474400-64481000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:64474400-64481000	Weak transcription	Fetal Lung	lung
44	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:64474600-64481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:64474800-64480600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:64475000-64484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:64475000-64487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:64475000-64488400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart

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