Variant report

Variant	rs58812872
Chromosome Location	chr14:65723216-65723217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65721103..65724002-chr14:65886062..65888088,2	MCF-7	breast:
2	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
3	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
4	chr14:65720811..65723510-chr20:45874802..45876375,2	MCF-7	breast:
5	chr14:65722451..65723961-chr14:65842364..65844574,2	MCF-7	breast:
6	chr14:65721766..65724259-chr14:65752829..65756528,3	MCF-7	breast:
7	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:
8	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
9	chr14:65722509..65724711-chr14:65800142..65803387,3	MCF-7	breast:
10	chr14:65721905..65725444-chr14:65725472..65730269,4	MCF-7	breast:
11	chr14:65721681..65725033-chr14:65872611..65875727,3	MCF-7	breast:
12	chr14:65720634..65723404-chr14:65821648..65825451,4	MCF-7	breast:
13	chr14:65583698..65586091-chr14:65722041..65724216,2	MCF-7	breast:
14	chr14:65722351..65723988-chr14:65745085..65747003,2	MCF-7	breast:
15	chr14:65720143..65726834-chr14:65876571..65883583,24	MCF-7	breast:
16	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266740	Chromatin interaction
ENSG00000255002	Chromatin interaction
ENSG00000258878	Chromatin interaction
ENSG00000259078	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11847250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848157	1.00[AMR][1000 genomes]
rs11851673	1.00[AMR][1000 genomes]
rs11852095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56060562	1.00[AMR][1000 genomes]
rs56832874	1.00[AMR][1000 genomes]
rs57894445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57933888	1.00[AMR][1000 genomes]
rs60278298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276106	1.00[AMR][1000 genomes]
rs73276145	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276168	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv976853	chr14:65708032-65723266	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65716800-65723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:65718800-65725200	Enhancers	Placenta	Placenta
5	chr14:65720400-65725600	Enhancers	Fetal Intestine Large	intestine
6	chr14:65720600-65726000	Enhancers	HMEC	breast
7	chr14:65720800-65723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:65721200-65724000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:65721400-65723400	Enhancers	NHDF-Ad	bronchial
10	chr14:65721600-65723400	Enhancers	Primary T cells from cord blood	blood
11	chr14:65721600-65723600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:65721600-65723800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:65721600-65724000	Enhancers	Dnd41	blood
14	chr14:65721600-65724400	Enhancers	Fetal Thymus	thymus
15	chr14:65721600-65725600	Enhancers	Stomach Mucosa	stomach
16	chr14:65721600-65727000	Enhancers	HUVEC	blood vessel
17	chr14:65721800-65723400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:65721800-65723400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:65721800-65723400	Flanking Active TSS	HepG2	liver
20	chr14:65721800-65723600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:65722000-65723400	Enhancers	Thymus	Thymus
22	chr14:65722200-65726000	Enhancers	A549	lung
23	chr14:65722200-65728400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:65722400-65723400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:65722400-65723400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:65722400-65724200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:65722400-65724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:65722400-65724200	Weak transcription	NHLF	lung
29	chr14:65722400-65724800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:65722400-65725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:65722600-65723400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr14:65722600-65723400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:65722600-65724000	Weak transcription	Osteobl	bone
34	chr14:65722600-65724800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:65722800-65723400	Enhancers	Primary hematopoietic stem cells	blood
36	chr14:65722800-65723600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:65722800-65724200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:65722800-65724200	Weak transcription	Esophagus	oesophagus
39	chr14:65722800-65724400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:65722800-65724400	Weak transcription	HSMM	muscle
41	chr14:65722800-65725000	Enhancers	Fetal Intestine Small	intestine
42	chr14:65723000-65723400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:65723000-65723400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:65723000-65723400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr14:65723000-65723400	Flanking Active TSS	Hela-S3	cervix
46	chr14:65723000-65723600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:65723000-65724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:65723200-65724000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:65723200-65724200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:65723200-65724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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