Variant report

Variant	rs533517
Chromosome Location	chr5:14209860-14209861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14208718..14210665-chr5:14222445..14224671,2	MCF-7	breast:
2	chr5:14201198..14203758-chr5:14208446..14210570,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13184670	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299506	1.00[ASN][1000 genomes]
rs187386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.97[EUR][1000 genomes]
rs245470	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32335	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	1.00[ASN][1000 genomes]
rs354287	0.83[ASN][1000 genomes]
rs354288	1.00[ASN][1000 genomes]
rs354298	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	1.00[EUR][1000 genomes]
rs354310	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397098	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
2	chr5:14202200-14212600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
4	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:14204400-14210400	Weak transcription	Fetal Heart	heart
6	chr5:14204600-14210000	Weak transcription	Placenta	Placenta
7	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14205200-14210000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:14205200-14210400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:14205200-14210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:14205200-14211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:14205200-14212000	Weak transcription	Aorta	Aorta
13	chr5:14205400-14210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:14205400-14210400	Weak transcription	Brain Germinal Matrix	brain
15	chr5:14205400-14210400	Weak transcription	Fetal Brain Female	brain
16	chr5:14205400-14212000	Enhancers	Primary B cells from cord blood	blood
17	chr5:14205400-14212800	Weak transcription	Brain Anterior Caudate	brain
18	chr5:14205400-14213000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:14205400-14214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:14205400-14214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
22	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:14205600-14210400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:14205600-14213000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:14205600-14213200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:14205600-14213400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:14205800-14211600	Enhancers	HUVEC	blood vessel
30	chr5:14205800-14215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:14206000-14210000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:14206600-14211800	Enhancers	Fetal Lung	lung
33	chr5:14206800-14210000	Enhancers	Fetal Intestine Small	intestine
34	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
35	chr5:14207000-14210800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:14207000-14212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:14207000-14212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:14207400-14210000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:14207600-14211400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:14207600-14214800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:14207800-14210000	Weak transcription	Right Atrium	heart
42	chr5:14208400-14210000	Enhancers	Colonic Mucosa	Colon
43	chr5:14208400-14210400	Enhancers	Fetal Stomach	stomach
44	chr5:14208400-14212400	Weak transcription	Primary T cells from cord blood	blood
45	chr5:14208400-14212600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:14208400-14213800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:14208600-14210000	Weak transcription	Gastric	stomach
48	chr5:14208800-14210200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:14208800-14210400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:14208800-14210600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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