Variant report

Variant	rs74056443
Chromosome Location	chr14:64974052-64974053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64973232-64974789	GM12878	blood:	n/a	n/a
2	MYC	chr14:64974004-64974523	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr14:64974029-64974277	K562	blood:	n/a	chr14:64974158-64974168 chr14:64974157-64974169 chr14:64974154-64974168 chr14:64974157-64974174 chr14:64974157-64974171 chr14:64974158-64974169 chr14:64974155-64974172 chr14:64974155-64974169 chr14:64974156-64974169 chr14:64974156-64974169 chr14:64974157-64974169
4	POLR2A	chr14:64974010-64974920	GM12878	blood:	n/a	n/a
5	FOS	chr14:64973939-64974445	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64973370..64976227-chr20:52238868..52240910,2	MCF-7	breast:
2	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
3	chr14:64952330..64955037-chr14:64972049..64976293,4	K562	blood:
4	chr14:64973577..64975906-chr14:65136944..65139422,2	MCF-7	breast:
5	chr14:64959822..64962033-chr14:64973410..64976563,3	K562	blood:
6	chr14:64972864..64974430-chr14:65133703..65136620,2	MCF-7	breast:
7	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
8	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
9	chr14:64952581..64955037-chr14:64973773..64976293,2	K562	blood:
10	chr14:64972127..64974828-chr17:57925743..57928112,2	MCF-7	breast:
11	chr14:64972191..64974986-chr14:64988003..64989901,3	MCF-7	breast:
12	chr14:64973191..64975361-chr14:65169489..65172420,3	MCF-7	breast:
13	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
14	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
15	chr14:64804345..64806139-chr14:64972304..64974654,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB25	TF binding region
ENSG00000126803	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000259160	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74056441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056445	0.96[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64967800-64974200	Active TSS	GM12878-XiMat	blood
2	chr14:64968800-64974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:64969600-64974200	Active TSS	NHLF	lung
4	chr14:64971800-64975200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:64972200-64974800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr14:64972200-64975400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:64972400-64974200	Flanking Active TSS	Dnd41	blood
8	chr14:64972400-64975200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:64972400-64975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:64972600-64974200	Weak transcription	Spleen	Spleen
11	chr14:64972600-64974400	Flanking Active TSS	NHEK	skin
12	chr14:64972800-64974200	Weak transcription	Ovary	ovary
13	chr14:64972800-64974400	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:64972800-64974600	Enhancers	Brain Substantia Nigra	brain
15	chr14:64972800-64974800	Enhancers	Brain Angular Gyrus	brain
16	chr14:64972800-64974800	Enhancers	Fetal Brain Female	brain
17	chr14:64972800-64975000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:64972800-64975200	Enhancers	Colon Smooth Muscle	Colon
19	chr14:64972800-64975600	Weak transcription	Esophagus	oesophagus
20	chr14:64972800-64975600	Weak transcription	Gastric	stomach
21	chr14:64972800-64975800	Weak transcription	Lung	lung
22	chr14:64972800-64976200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:64972800-64976400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:64972800-64977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:64972800-64978800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:64972800-64979200	Enhancers	Small Intestine	intestine
27	chr14:64972800-64988400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:64972800-64991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:64973000-64974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64973000-64974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:64973000-64974800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:64973000-64975200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:64973000-64975200	Enhancers	Fetal Stomach	stomach
34	chr14:64973000-64975600	Weak transcription	Placenta	Placenta
35	chr14:64973000-64976000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:64973000-64976400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:64973000-64979400	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:64973200-64974400	Flanking Active TSS	A549	lung
39	chr14:64973200-64974400	Flanking Active TSS	HUVEC	blood vessel
40	chr14:64973200-64974400	Flanking Active TSS	Osteobl	bone
41	chr14:64973200-64974600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr14:64973200-64974600	Flanking Active TSS	Hela-S3	cervix
43	chr14:64973200-64974600	Flanking Active TSS	HMEC	breast
44	chr14:64973200-64974800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:64973200-64974800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr14:64973200-64974800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:64973200-64974800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:64973200-64976000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:64973200-64976000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:64973200-64976200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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