Variant report

Variant	rs7153292
Chromosome Location	chr14:39740167-39740168
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:39740145-39740240	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39736982..39739247-chr14:39739513..39742286,3	K562	blood:
2	chr14:39639538..39641336-chr14:39738634..39740819,2	MCF-7	breast:
3	chr14:39737724..39741488-chr14:39742832..39745249,3	K562	blood:
4	chr14:39733456..39736427-chr14:39738159..39742075,4	K562	blood:
5	chr14:39733186..39738068-chr14:39738751..39742738,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258940	TF binding region
ENSG00000150527	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11623676	1.00[AMR][1000 genomes]
rs17109037	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109123	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109135	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109146	1.00[AMR][1000 genomes]
rs17109165	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109170	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109216	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109235	1.00[AMR][1000 genomes]
rs1955717	1.00[AMR][1000 genomes]
rs1955723	1.00[AMR][1000 genomes]
rs2057140	1.00[AMR][1000 genomes]
rs2196170	1.00[AMR][1000 genomes]
rs4899281	1.00[AMR][1000 genomes]
rs4902644	1.00[AMR][1000 genomes]
rs57704406	1.00[AMR][1000 genomes]
rs59310392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142121	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs719456	1.00[AMR][1000 genomes]
rs8016370	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs926805	0.80[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737000-39741000	Weak transcription	Spleen	Spleen
2	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:39737200-39741600	Weak transcription	Esophagus	oesophagus
4	chr14:39737800-39748800	Weak transcription	Right Ventricle	heart
5	chr14:39737800-39750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:39737800-39763800	Weak transcription	Gastric	stomach
7	chr14:39738000-39740400	Enhancers	Primary T cells from cord blood	blood
8	chr14:39738000-39740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr14:39738000-39740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:39738000-39740600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:39738000-39740800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:39738000-39740800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:39738000-39740800	Weak transcription	Brain Germinal Matrix	brain
14	chr14:39738000-39742400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:39738000-39742600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:39738000-39744400	Weak transcription	Right Atrium	heart
17	chr14:39738000-39748800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:39738000-39750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:39738000-39752000	Weak transcription	Stomach Mucosa	stomach
20	chr14:39738000-39763800	Weak transcription	HSMM	muscle
21	chr14:39738200-39740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:39738200-39741000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:39738200-39741000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:39738200-39741000	Weak transcription	Fetal Stomach	stomach
25	chr14:39738200-39742000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:39738200-39745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:39738200-39747000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:39738200-39748800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:39738200-39748800	Weak transcription	Fetal Kidney	kidney
30	chr14:39738200-39748800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:39738200-39748800	Weak transcription	Osteobl	bone
32	chr14:39738200-39751800	Weak transcription	Colonic Mucosa	Colon
33	chr14:39738200-39751800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:39738200-39759200	Weak transcription	NH-A	brain
35	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
36	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
37	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:39738400-39740200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:39738600-39740200	Genic enhancers	HepG2	liver
41	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:39738800-39740200	Enhancers	GM12878-XiMat	blood
43	chr14:39738800-39740800	Weak transcription	Primary B cells from cord blood	blood
44	chr14:39738800-39747800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:39738800-39748800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:39738800-39748800	Weak transcription	Adipose Nuclei	Adipose
47	chr14:39738800-39748800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:39738800-39748800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
50	chr14:39739000-39740800	Weak transcription	Fetal Intestine Large	intestine

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