Variant report

Variant	rs28645145
Chromosome Location	chr14:21577177-21577178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:21577054-21577293	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:21576908-21577371	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:21576993-21577335	GM12878	blood:	n/a	n/a
4	MEF2A	chr14:21576924-21577411	GM12878	blood:	n/a	n/a
5	EP300	chr14:21577018-21577266	GM12878	blood:	n/a	n/a
6	MEF2A	chr14:21576919-21577250	GM12878	blood:	n/a	n/a
7	SPI1	chr14:21576959-21577218	GM12891	blood:	n/a	n/a
8	BHLHE40	chr14:21577061-21577204	GM12878	blood:	n/a	n/a
9	STAT3	chr14:21577121-21577252	GM12878	blood:	n/a	n/a
10	NFIC	chr14:21576921-21577378	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21577096..21579625-chr14:21595233..21598177,2	K562	blood:
2	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
3	chr14:21576698..21579313-chr14:21579611..21582479,2	K562	blood:
4	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:

No data

Variant related genes	Relation type
ZNF219	TF binding region
ENSG00000165801	Chromatin interaction
ENSG00000200102	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000258722	Chromatin interaction
ENSG00000165795	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4982409	1.00[ASN][1000 genomes]
rs4982411	1.00[ASN][1000 genomes]
rs57471121	0.80[EUR][1000 genomes]
rs61405772	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73571904	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73571905	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73571913	0.94[ASN][1000 genomes]
rs8006832	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv524093	chr14:21574690-21652897	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21574800-21577800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:21575200-21577200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:21575200-21577600	Weak transcription	Fetal Kidney	kidney
4	chr14:21575400-21578200	Weak transcription	Dnd41	blood
5	chr14:21575600-21577200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:21575600-21577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:21575800-21577400	Weak transcription	Fetal Intestine Small	intestine
8	chr14:21575800-21578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:21575800-21578200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:21575800-21579200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:21575800-21579400	Enhancers	HepG2	liver
12	chr14:21576000-21578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:21576000-21585600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:21576200-21578000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:21576400-21577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:21576400-21577400	Weak transcription	Fetal Intestine Large	intestine
17	chr14:21576400-21577400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:21576400-21577400	Weak transcription	K562	blood
19	chr14:21576400-21577800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:21576400-21578000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:21576400-21578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:21576400-21578000	Weak transcription	NHEK	skin
23	chr14:21576400-21578200	Weak transcription	HMEC	breast
24	chr14:21576400-21578600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:21576800-21579400	Enhancers	Hela-S3	cervix
26	chr14:21576800-21580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:21577000-21577400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:21577000-21578600	Flanking Active TSS	GM12878-XiMat	blood

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