Variant report

Variant	rs28570451
Chromosome Location	chr14:104390032-104390033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr14:104389782-104390694	K562	blood:	n/a	n/a
2	EP300	chr14:104389901-104390966	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr14:104389920-104390070	BE2_C	brain:	n/a	n/a
4	MXI1	chr14:104389711-104391023	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr14:104389795-104390054	SH-SY5Y	brain:	n/a	n/a
6	MYC	chr14:104389962-104390506	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104387945..104390196-chr14:104396396..104397958,2	MCF-7	breast:
2	chr14:104388901..104390862-chr14:104393087..104395291,2	MCF-7	breast:
3	chr14:104094616..104096793-chr14:104389564..104391467,2	K562	blood:
4	chr14:104389161..104391143-chr14:104411439..104413629,2	K562	blood:

No data

Variant related genes	Relation type
TDRD9	TF binding region
C14orf2	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28612170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6576011	0.80[AFR][1000 genomes]
rs8016475	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104388200-104390200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:104388200-104392000	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:104388200-104393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:104388400-104391600	Weak transcription	HepG2	liver
5	chr14:104388400-104392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:104389600-104390400	Enhancers	Placenta	Placenta
7	chr14:104389600-104390600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:104389800-104390600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:104389800-104390800	Enhancers	Fetal Heart	heart
10	chr14:104390000-104390200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:104390000-104390200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:104390000-104390200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:104390000-104390200	Enhancers	Liver	Liver
14	chr14:104390000-104390200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
15	chr14:104390000-104390600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:104390000-104390600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:104390000-104390600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr14:104390000-104390600	Flanking Active TSS	K562	blood
19	chr14:104390000-104390800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:104390000-104390800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links