Variant report

Variant	rs28482150
Chromosome Location	chr14:105888457-105888458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105888137-105888479	GM12878	blood:	n/a	n/a
2	MYC	chr14:105888259-105888560	NB4	blood:	n/a	n/a
3	POLR2A	chr14:105887877-105888604	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:105887949-105888523	A549	lung:	n/a	n/a
5	PAX5	chr14:105888427-105888690	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:105886708-105889552	SK-N-MC	brain:	n/a	n/a
7	MAZ	chr14:105888190-105888588	GM12878	blood:	n/a	n/a
8	SPI1	chr14:105888298-105888579	GM12891	blood:	n/a	n/a
9	MYC	chr14:105888307-105888484	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:105887218-105888806	K562	blood:	n/a	n/a
11	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr14:105888147-105888515	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:105888316-105888477	A549	lung:	n/a	n/a
14	MXI1	chr14:105888220-105888534	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:105888450-105888511	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:105887658-105889099	HepG2	liver:	n/a	n/a
17	MAX	chr14:105888287-105888563	GM12878	blood:	n/a	n/a
18	SPI1	chr14:105888332-105888660	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:105888293-105888635	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:105887938-105888532	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:105888213-105888660	GM12891	blood:	n/a	n/a
22	USF2	chr14:105888237-105888597	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:105888222-105888530	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELF1	chr14:105888013-105888613	GM12878	blood:	n/a	chr14:105888198-105888210
25	MAX	chr14:105888269-105888608	NB4	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105835990..105838531-chr14:105887072..105888868,2	K562	blood:
2	chr14:105863063..105865456-chr14:105887763..105889442,3	K562	blood:
3	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
4	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
5	chr14:105779766..105781662-chr14:105888311..105890872,2	MCF-7	breast:
6	chr14:105886107..105887818-chr14:105887974..105889607,2	MCF-7	breast:
7	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
8	chr14:105888342..105894950-chr14:105900669..105908153,8	MCF-7	breast:
9	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
10	chr14:105887282..105889637-chr14:105895992..105898524,2	MCF-7	breast:
11	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:
12	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
13	chr14:105887761..105889537-chr14:105933302..105935322,2	MCF-7	breast:
14	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10132193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133343	1.00[AMR][1000 genomes]
rs10133666	1.00[AMR][1000 genomes]
rs10136894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137499	1.00[AMR][1000 genomes]
rs10142763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150076	1.00[AMR][1000 genomes]
rs10151345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152000	1.00[AMR][1000 genomes]
rs11847920	1.00[AMR][1000 genomes]
rs11850681	1.00[AMR][1000 genomes]
rs11850746	1.00[AMR][1000 genomes]
rs28406946	1.00[AMR][1000 genomes]
rs28419155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451686	1.00[AMR][1000 genomes]
rs28507499	1.00[AMR][1000 genomes]
rs28537945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539444	1.00[AMR][1000 genomes]
rs28545230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28588179	1.00[AMR][1000 genomes]
rs28665678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28710336	1.00[AMR][1000 genomes]
rs28733380	1.00[AMR][1000 genomes]
rs28741003	0.85[AFR][1000 genomes]
rs4073351	1.00[AMR][1000 genomes]
rs4073352	1.00[AMR][1000 genomes]
rs56734561	1.00[AMR][1000 genomes]
rs61326617	1.00[AMR][1000 genomes]
rs7158718	1.00[AMR][1000 genomes]
rs73361045	1.00[AMR][1000 genomes]
rs8009536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9743768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989145	0.82[AFR][1000 genomes];1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105886600-105889400	Enhancers	Fetal Brain Male	brain
2	chr14:105886800-105888600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr14:105886800-105888600	Flanking Active TSS	Colonic Mucosa	Colon
4	chr14:105886800-105888600	Flanking Active TSS	Fetal Brain Female	brain
5	chr14:105886800-105888600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr14:105886800-105888600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr14:105886800-105888800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:105886800-105889000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr14:105886800-105889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:105887000-105888600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:105887000-105888800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr14:105887000-105888800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:105887000-105888800	Flanking Active TSS	HMEC	breast
14	chr14:105887000-105889400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:105887200-105888800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr14:105887200-105888800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:105887200-105897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:105887400-105888600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:105887400-105888800	Enhancers	Primary B cells from cord blood	blood
20	chr14:105887400-105889200	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:105887400-105889200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:105887400-105889200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:105887400-105889200	Enhancers	Liver	Liver
24	chr14:105887400-105889200	Enhancers	Stomach Mucosa	stomach
25	chr14:105887400-105889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:105887400-105889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:105887400-105889400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:105887400-105889400	Enhancers	Fetal Heart	heart
29	chr14:105887400-105889400	Enhancers	Fetal Lung	lung
30	chr14:105887400-105889400	Enhancers	Placenta	Placenta
31	chr14:105887400-105889400	Enhancers	Spleen	Spleen
32	chr14:105887400-105892400	Weak transcription	Aorta	Aorta
33	chr14:105887600-105888600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:105887600-105888800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:105887600-105888800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:105887600-105888800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:105887600-105888800	Flanking Active TSS	GM12878-XiMat	blood
38	chr14:105887600-105889000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
39	chr14:105887600-105889000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:105887600-105889200	Enhancers	Right Atrium	heart
41	chr14:105887600-105889400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr14:105887600-105889600	Enhancers	Left Ventricle	heart
43	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:105887800-105888600	Enhancers	Colon Smooth Muscle	Colon
45	chr14:105887800-105888800	Genic enhancers	H1 Cell Line	embryonic stem cell
46	chr14:105887800-105889200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:105887800-105889200	Enhancers	Gastric	stomach
48	chr14:105887800-105889400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:105887800-105889800	Enhancers	Ovary	ovary
50	chr14:105887800-105890200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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