Variant report

Variant	rs2281703
Chromosome Location	chr14:24551567-24551568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24549925-24551699	K562	blood:	n/a	n/a
2	ZNF263	chr14:24551458-24552610	HEK293-T-REx	kidney:	n/a	chr14:24551628-24551637

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24549544..24554784-chr14:24561532..24565355,15	MCF-7	breast:
2	chr14:24550428..24553290-chr14:24629057..24631041,2	K562	blood:
3	chr14:24524745..24526605-chr14:24550189..24551764,2	K562	blood:
4	chr14:24519308..24521603-chr14:24550146..24552325,2	K562	blood:
5	chr14:24549877..24552105-chr14:24657593..24659163,2	MCF-7	breast:
6	chr14:24551332..24553952-chr14:24614693..24617226,3	MCF-7	breast:
7	chr14:24519146..24523502-chr14:24549476..24554002,6	MCF-7	breast:
8	chr14:24524905..24527196-chr14:24550609..24553434,2	MCF-7	breast:
9	chr14:24543202..24545160-chr14:24551446..24553166,2	K562	blood:
10	chr14:24536726..24542403-chr14:24546642..24552586,6	K562	blood:
11	chr14:24549455..24551835-chr14:24551883..24554774,2	K562	blood:
12	chr14:24549655..24552374-chr14:24561781..24565761,8	K562	blood:
13	chr14:24525575..24527167-chr14:24551238..24553114,2	MCF-7	breast:

No data

Variant related genes	Relation type
NRL	TF binding region
ENSG00000092098	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000213928	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11629199	1.00[JPT][hapmap]
rs62000826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73603077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs762088	1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24551000-24551600	Enhancers	Primary B cells from cord blood	blood
2	chr14:24551000-24551600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:24551000-24551600	Flanking Active TSS	K562	blood
4	chr14:24551000-24551800	Enhancers	Lung	lung
5	chr14:24551000-24552000	Bivalent Enhancer	Fetal Brain Male	brain
6	chr14:24551000-24555800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24551000-24563400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:24551200-24551600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr14:24551200-24551600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:24551200-24551600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:24551200-24551600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:24551200-24551600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr14:24551200-24551600	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:24551200-24551600	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr14:24551200-24551600	Weak transcription	Gastric	stomach
16	chr14:24551200-24551600	Enhancers	A549	lung
17	chr14:24551200-24551800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:24551200-24551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:24551200-24551800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:24551200-24551800	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr14:24551200-24551800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:24551200-24551800	Bivalent Enhancer	Fetal Thymus	thymus
23	chr14:24551200-24552200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:24551200-24552200	Enhancers	Fetal Intestine Small	intestine
25	chr14:24551200-24553400	Enhancers	Liver	Liver
26	chr14:24551200-24562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:24551200-24562800	Weak transcription	Spleen	Spleen
28	chr14:24551400-24551600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr14:24551400-24551600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr14:24551400-24551600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr14:24551400-24551600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:24551400-24551600	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:24551400-24551600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr14:24551400-24551600	Bivalent Enhancer	HepG2	liver
35	chr14:24551400-24551800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr14:24551400-24551800	Enhancers	Primary B cells from peripheral blood	blood

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