Variant report

Variant	rs28609254
Chromosome Location	chr14:64505332-64505333
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	chr14:64476776..64478688-chr14:64505226..64506868,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10151127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11844088	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11844628	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12586503	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2153481	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28572628	0.90[EUR][1000 genomes]
rs3866737	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4027405	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4462521	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4899131	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573542	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7144722	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7147157	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157594	0.81[AMR][1000 genomes];0.90[EUR][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	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
3	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
4	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
5	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
6	esv1821411	chr14:64488037-64506541	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:64466600-64513200	Weak transcription	NHEK	skin
4	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:64469600-64518400	Weak transcription	HMEC	breast
7	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
8	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
9	chr14:64475600-64505600	Weak transcription	Esophagus	oesophagus
10	chr14:64475600-64518400	Weak transcription	Gastric	stomach
11	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
13	chr14:64489000-64518400	Weak transcription	HUVEC	blood vessel
14	chr14:64489200-64526600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
16	chr14:64490000-64515800	Weak transcription	Right Ventricle	heart
17	chr14:64490200-64510000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:64491200-64518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:64492000-64518600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:64492200-64518400	Weak transcription	Fetal Brain Male	brain
22	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
23	chr14:64492400-64505800	Weak transcription	Psoas Muscle	Psoas
24	chr14:64492400-64518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:64492600-64513200	Weak transcription	Aorta	Aorta
26	chr14:64492600-64513400	Weak transcription	Spleen	Spleen
27	chr14:64493600-64513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:64495800-64510400	Weak transcription	Pancreas	Pancrea
29	chr14:64498200-64505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:64498200-64516600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:64498600-64518400	Weak transcription	Primary B cells from cord blood	blood
32	chr14:64498800-64512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:64498800-64518400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:64498800-64518400	Weak transcription	Fetal Kidney	kidney
35	chr14:64499000-64515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:64499000-64518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:64499000-64518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:64499200-64510000	Weak transcription	Fetal Thymus	thymus
40	chr14:64499200-64510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:64499200-64510800	Weak transcription	Primary T cells from cord blood	blood
42	chr14:64499200-64512200	Weak transcription	Adipose Nuclei	Adipose
43	chr14:64499200-64512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:64499200-64513400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:64499200-64516400	Weak transcription	Ovary	ovary
46	chr14:64499200-64516400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:64499200-64518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:64499200-64518400	Weak transcription	Liver	Liver
49	chr14:64499400-64512600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:64499400-64513200	Weak transcription	Fetal Muscle Trunk	muscle

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