Variant report

Variant	rs7521458
Chromosome Location	chr1:154407713-154407714
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	chr1:154403886..154406138-chr1:154407625..154409567,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11265613	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126142	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12133641	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12730036	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730935	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12753254	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228145	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4129267	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4133213	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4393147	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453032	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4537545	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4576655	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4845372	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845373	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845622	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845623	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56383622	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61812598	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6664201	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684439	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512646	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7518199	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529229	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154397000-154414200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:154399600-154409200	Enhancers	Placenta	Placenta
3	chr1:154400800-154410600	Strong transcription	Primary T cells from cord blood	blood
4	chr1:154402400-154407800	Enhancers	Fetal Heart	heart
5	chr1:154403200-154408000	Enhancers	Right Ventricle	heart
6	chr1:154403200-154426000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:154403800-154417600	Weak transcription	Small Intestine	intestine
8	chr1:154404200-154411400	Weak transcription	Fetal Kidney	kidney
9	chr1:154404400-154411400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:154404600-154412200	Weak transcription	A549	lung
11	chr1:154405400-154410600	Weak transcription	GM12878-XiMat	blood
12	chr1:154405400-154411600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:154405600-154409400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:154405600-154409800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:154405600-154411600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:154405600-154412200	Weak transcription	Psoas Muscle	Psoas
17	chr1:154405600-154413600	Weak transcription	Thymus	Thymus
18	chr1:154405800-154410600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:154405800-154410600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:154405800-154410800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:154405800-154411400	Weak transcription	HepG2	liver
22	chr1:154406000-154408800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:154406000-154411400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:154406000-154412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:154406000-154423200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:154406200-154407800	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:154406200-154408200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:154406200-154408400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:154406200-154408800	Strong transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:154406200-154410600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:154406200-154410800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:154406200-154411000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:154406200-154412600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:154406200-154417600	Weak transcription	Hela-S3	cervix
35	chr1:154406200-154425600	Weak transcription	Primary B cells from cord blood	blood
36	chr1:154406400-154410600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:154406400-154414000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:154406600-154410400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:154406800-154407800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
40	chr1:154406800-154407800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr1:154406800-154408400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:154406800-154408600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:154406800-154408800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:154406800-154409200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:154406800-154409400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:154407000-154407800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:154407000-154407800	Genic enhancers	NHLF	lung
48	chr1:154407000-154408400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:154407000-154408400	Strong transcription	Spleen	Spleen
50	chr1:154407000-154409200	Genic enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links