Variant report

Variant	rs17128052
Chromosome Location	chr14:55356525-55356526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr14:55356390-55356684	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55351116..55353467-chr14:55355068..55357626,2	MCF-7	breast:

Variant related genes	Relation type
FDPSP3	TF binding region
ENSG00000258872	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10140164	0.83[CHB][hapmap]
rs10143038	0.85[EUR][1000 genomes]
rs10149103	0.87[EUR][1000 genomes]
rs1107960	0.85[CHB][hapmap]
rs1107961	0.85[EUR][1000 genomes]
rs11158028	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs11621165	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[EUR][1000 genomes]
rs11621177	0.87[EUR][1000 genomes]
rs11626210	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11626396	0.83[EUR][1000 genomes]
rs11629355	0.81[EUR][1000 genomes]
rs11847771	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs11852045	0.87[EUR][1000 genomes]
rs17253633	0.95[CEU][hapmap];0.92[CHB][hapmap]
rs2878172	0.83[CHB][hapmap]
rs34544088	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759662	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759663	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759664	0.95[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783639	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783641	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55726650	0.81[EUR][1000 genomes]
rs55751189	0.88[EUR][1000 genomes]
rs56013432	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56213135	0.85[EUR][1000 genomes]
rs57095876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58293795	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60258834	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61709472	0.88[EUR][1000 genomes]
rs67620272	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7147201	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713477	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72713482	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72715547	0.87[EUR][1000 genomes]
rs72715552	0.81[EUR][1000 genomes]
rs8006363	0.88[EUR][1000 genomes]
rs8007267	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs8008858	0.83[EUR][1000 genomes]
rs8010570	0.86[EUR][1000 genomes]
rs8011358	0.88[EUR][1000 genomes]
rs8017210	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018688	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019390	0.85[CHB][hapmap]
rs8020545	0.85[CHB][hapmap]
rs8020798	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022453	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs8023187	0.84[CHB][hapmap]
rs943913	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

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	chr14:55349200-55357800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:55349200-55358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
7	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
8	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:55352800-55358200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:55353800-55357600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:55353800-55358200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:55354200-55357200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:55354600-55357000	Enhancers	NHEK	skin
19	chr14:55354800-55356800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:55354800-55356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:55354800-55356800	Enhancers	HepG2	liver
22	chr14:55355000-55356800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:55355000-55356800	Enhancers	Liver	Liver
24	chr14:55355000-55357400	Enhancers	GM12878-XiMat	blood
25	chr14:55355000-55358400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:55355200-55358400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:55355200-55358400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:55355200-55360400	Weak transcription	HMEC	breast
29	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:55355600-55359000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:55355600-55359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:55355600-55360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:55355800-55356600	Enhancers	K562	blood
34	chr14:55355800-55356800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:55355800-55357000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:55355800-55358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55355800-55359800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:55356000-55356600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:55356000-55356800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr14:55356000-55358400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
46	chr14:55356200-55358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:55356400-55356600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:55356400-55356800	Enhancers	Fetal Intestine Small	intestine
49	chr14:55356400-55358600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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