Variant report

Variant	rs66684280
Chromosome Location	chr14:64349595-64349596
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64349303..64352052-chr2:9373051..9375606,2	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]
rs12588807	1.00[ASN][1000 genomes]
rs12588955	0.86[ASN][1000 genomes]
rs12589453	0.83[ASN][1000 genomes]
rs12878037	1.00[ASN][1000 genomes]
rs12878348	1.00[ASN][1000 genomes]
rs12879374	0.86[ASN][1000 genomes]
rs12881942	1.00[ASN][1000 genomes]
rs12882429	1.00[ASN][1000 genomes]
rs12894963	1.00[ASN][1000 genomes]
rs34328391	0.86[ASN][1000 genomes]
rs34451919	0.86[ASN][1000 genomes]
rs34556545	0.93[ASN][1000 genomes]
rs34561759	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009554	1.00[ASN][1000 genomes]
rs35033077	0.83[ASN][1000 genomes]
rs35168922	1.00[ASN][1000 genomes]
rs35302448	1.00[ASN][1000 genomes]
rs35984502	0.86[ASN][1000 genomes]
rs4459477	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67289344	1.00[ASN][1000 genomes]
rs71416319	1.00[ASN][1000 genomes]
rs7144308	0.86[ASN][1000 genomes]
rs7401191	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	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
2	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:64327600-64360000	Weak transcription	Gastric	stomach
4	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:64337000-64357200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
9	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
10	chr14:64338000-64353800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:64338000-64355200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:64341000-64356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:64341000-64357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64341200-64351000	Weak transcription	Right Ventricle	heart
16	chr14:64341200-64352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:64341200-64352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:64341200-64354000	Weak transcription	Dnd41	blood
19	chr14:64341200-64354800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:64341200-64356400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:64341200-64356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:64341200-64356600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:64341200-64357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:64341200-64357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:64341200-64357200	Weak transcription	Fetal Lung	lung
26	chr14:64341200-64357200	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:64341400-64352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:64341400-64352600	Weak transcription	Stomach Mucosa	stomach
29	chr14:64341400-64356600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:64341400-64356600	Weak transcription	Fetal Kidney	kidney
31	chr14:64341400-64366800	Weak transcription	Primary T cells from cord blood	blood
32	chr14:64342000-64350800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:64342400-64350800	Weak transcription	Pancreas	Pancrea
34	chr14:64342400-64354800	Weak transcription	Aorta	Aorta
35	chr14:64342400-64357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:64342600-64352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:64342600-64352400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:64342600-64357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:64342800-64351000	Weak transcription	Lung	lung
40	chr14:64342800-64351600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr14:64342800-64352400	Weak transcription	Adipose Nuclei	Adipose
42	chr14:64342800-64354200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:64342800-64357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:64342800-64357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:64342800-64360400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:64342800-64360400	Weak transcription	Hela-S3	cervix
47	chr14:64342800-64368400	Weak transcription	Esophagus	oesophagus
48	chr14:64343600-64359400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:64344000-64351000	Weak transcription	NHEK	skin
50	chr14:64344000-64357200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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