Variant report

Variant	rs72713482
Chromosome Location	chr14:55360836-55360837
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55360231..55364033-chr14:55366282..55369580,4	K562	blood:
2	chr14:55354060..55356270-chr14:55359922..55362227,2	K562	blood:
3	chr14:55359081..55363562-chr14:55365386..55370539,12	MCF-7	breast:
4	chr14:55359687..55364414-chr14:55366282..55370012,8	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10143038	0.87[EUR][1000 genomes]
rs10149103	0.89[EUR][1000 genomes]
rs1107961	0.87[EUR][1000 genomes]
rs11158028	0.85[EUR][1000 genomes]
rs11621165	0.90[EUR][1000 genomes]
rs11621177	0.89[EUR][1000 genomes]
rs11626210	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626396	0.85[EUR][1000 genomes]
rs11627963	0.81[EUR][1000 genomes]
rs11629355	0.82[EUR][1000 genomes]
rs11847771	0.89[EUR][1000 genomes]
rs11852045	0.89[EUR][1000 genomes]
rs17128052	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17253633	0.81[EUR][1000 genomes]
rs34544088	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759662	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759663	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759664	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783639	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783641	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45459500	0.81[EUR][1000 genomes]
rs55726650	0.82[EUR][1000 genomes]
rs55751189	0.89[EUR][1000 genomes]
rs56013432	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56188649	0.81[EUR][1000 genomes]
rs56213135	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57095876	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57622454	0.81[EUR][1000 genomes]
rs58293795	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59074935	0.81[EUR][1000 genomes]
rs60258834	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61709472	0.89[EUR][1000 genomes]
rs67620272	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147201	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713477	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72715547	0.89[EUR][1000 genomes]
rs72715552	0.83[EUR][1000 genomes]
rs72715575	0.81[EUR][1000 genomes]
rs8006363	0.89[EUR][1000 genomes]
rs8007267	0.85[EUR][1000 genomes]
rs8008858	0.85[EUR][1000 genomes]
rs8010570	0.88[EUR][1000 genomes]
rs8011358	0.89[EUR][1000 genomes]
rs8017210	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018688	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8020798	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022453	0.89[EUR][1000 genomes]
rs943913	0.89[EUR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
18	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:55356400-55362400	Weak transcription	Lung	lung
20	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
22	chr14:55356600-55367800	Weak transcription	K562	blood
23	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
25	chr14:55357000-55361800	Weak transcription	NHEK	skin
26	chr14:55357400-55361000	Weak transcription	HepG2	liver
27	chr14:55357600-55362200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:55358400-55361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:55359000-55361200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:55359000-55362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:55359000-55364200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:55359000-55366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:55360200-55363200	Enhancers	Liver	Liver
39	chr14:55360400-55362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:55360400-55362400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:55360400-55367200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:55360600-55362000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:55360600-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:55360600-55362200	Weak transcription	GM12878-XiMat	blood
45	chr14:55360800-55364400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:55360800-55367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:55360800-55367800	Weak transcription	HMEC	breast

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