Variant report

Variant	rs752265
Chromosome Location	chr14:105361934-105361935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
2	chr14:105361378..105363215-chr14:105404898..105407552,2	K562	blood:
3	chr14:105360836..105362867-chr14:105365317..105367503,2	K562	blood:
4	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:
5	chr14:105341650..105345212-chr14:105361341..105364354,4	MCF-7	breast:
6	chr14:105353091..105355273-chr14:105361625..105363258,2	K562	blood:
7	chr14:105252680..105255537-chr14:105361891..105364702,2	K562	blood:
8	chr14:105359445..105362307-chr14:105370488..105372774,2	MCF-7	breast:
9	chr14:105354054..105356669-chr14:105361595..105363882,2	MCF-7	breast:
10	chr14:105360455..105364557-chr14:105369943..105375774,6	MCF-7	breast:
11	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
12	chr12:50505022..50507306-chr14:105361578..105364030,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179627	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000259067	Chromatin interaction
ENSG00000272368	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10147348	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866824	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1866825	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2247712	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289453	0.80[AMR][1000 genomes]
rs2582544	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2582545	0.82[AMR][1000 genomes]
rs2582548	0.81[AMR][1000 genomes]
rs2582549	0.81[AMR][1000 genomes]
rs2841244	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2841245	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841254	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2919629	0.82[AMR][1000 genomes]
rs3742939	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs45580235	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56140783	0.83[ASN][1000 genomes]
rs6576063	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152667	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised 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	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
8	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
16	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105339600-105363000	Weak transcription	NH-A	brain
2	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:105347400-105362400	Weak transcription	HepG2	liver
4	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
6	chr14:105352200-105363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:105352600-105365200	Weak transcription	Fetal Lung	lung
8	chr14:105353200-105363600	Weak transcription	Osteobl	bone
9	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
10	chr14:105354400-105362600	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:105354400-105364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:105354600-105362000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:105354600-105362200	Weak transcription	Brain Angular Gyrus	brain
14	chr14:105354600-105363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:105354800-105362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:105354800-105365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:105355200-105365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:105355400-105367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:105355600-105362800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:105355600-105363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:105356000-105362400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:105356000-105363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:105356000-105363600	Weak transcription	Ovary	ovary
24	chr14:105356200-105362000	Weak transcription	HMEC	breast
25	chr14:105356200-105363000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:105356200-105365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:105357400-105362400	Strong transcription	Fetal Intestine Small	intestine
28	chr14:105358800-105362000	Strong transcription	Brain Germinal Matrix	brain
29	chr14:105359000-105362000	Weak transcription	HSMM	muscle
30	chr14:105359000-105362600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr14:105359200-105362600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:105359400-105362000	Strong transcription	Fetal Stomach	stomach
33	chr14:105359400-105362200	Strong transcription	NHLF	lung
34	chr14:105359400-105362400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:105359400-105363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:105359600-105362200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr14:105360000-105362000	Genic enhancers	Pancreas	Pancrea
38	chr14:105360000-105362400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:105360200-105362000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:105360200-105362200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr14:105360200-105362400	Genic enhancers	Gastric	stomach
42	chr14:105360200-105363000	Enhancers	Spleen	Spleen
43	chr14:105360400-105362200	Enhancers	Left Ventricle	heart
44	chr14:105360400-105362600	Enhancers	HUVEC	blood vessel
45	chr14:105360600-105362000	Strong transcription	Fetal Brain Female	brain
46	chr14:105360600-105362200	Enhancers	Liver	Liver
47	chr14:105360800-105362200	Strong transcription	NHEK	skin
48	chr14:105360800-105362600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:105360800-105363200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:105361000-105362200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links