Variant report

Variant	rs17101253
Chromosome Location	chr14:63968965-63968966
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63968861..63971377-chr14:63987862..63989958,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11847169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1988781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28894732	0.80[AFR][1000 genomes]
rs57530734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59282502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443470	0.90[AFR][1000 genomes]
rs7142618	1.00[AMR][1000 genomes]
rs7146697	1.00[AMR][1000 genomes]
rs7157776	1.00[AMR][1000 genomes]
rs72716326	0.80[AFR][1000 genomes]
rs8014212	1.00[AMR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
3	chr14:63950600-63974800	Weak transcription	Gastric	stomach
4	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
5	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:63951000-64003200	Weak transcription	Ovary	ovary
7	chr14:63951400-63971400	Weak transcription	HepG2	liver
8	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:63954800-63970000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:63955000-63975000	Weak transcription	Primary B cells from cord blood	blood
13	chr14:63955200-63973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:63955200-63975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:63955200-63977000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:63955400-63973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:63959000-63976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:63959800-63969600	Weak transcription	Aorta	Aorta
20	chr14:63959800-63973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:63960000-63971400	Weak transcription	Hela-S3	cervix
22	chr14:63960000-63978000	Weak transcription	NHLF	lung
23	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:63960200-63977000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:63960200-63983200	Weak transcription	NH-A	brain
27	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
28	chr14:63960400-63969400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:63960400-63969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:63960400-63974600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:63960400-63974800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:63960400-63974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:63960400-63974800	Weak transcription	Fetal Thymus	thymus
34	chr14:63960400-63976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:63960600-63973400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:63960600-63973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:63960800-63973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:63961000-63970000	Weak transcription	NHEK	skin
44	chr14:63961000-63976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:63961200-63974800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:63961600-63969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:63962200-63977000	Weak transcription	Dnd41	blood
48	chr14:63962800-63974600	Weak transcription	Spleen	Spleen
49	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
50	chr14:63963000-63969000	Weak transcription	Right Atrium	heart

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