Variant report

Variant	rs57502626
Chromosome Location	chr1:154408916-154408917
allele	A/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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10159236	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11265618	0.85[ASN][1000 genomes]
rs11804305	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12023358	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12047973	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12048091	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12048950	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4308966	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4329505	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4345796	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4845626	0.87[ASN][1000 genomes]
rs55800510	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826755	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812592	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812593	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812596	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812599	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61812626	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7529670	0.81[AFR][1000 genomes]
rs7537306	0.81[AFR][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:90 , 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	chr1:154403200-154426000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:154403800-154417600	Weak transcription	Small Intestine	intestine
6	chr1:154404200-154411400	Weak transcription	Fetal Kidney	kidney
7	chr1:154404400-154411400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:154404600-154412200	Weak transcription	A549	lung
9	chr1:154405400-154410600	Weak transcription	GM12878-XiMat	blood
10	chr1:154405400-154411600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:154405600-154409400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:154405600-154409800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:154405600-154411600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:154405600-154412200	Weak transcription	Psoas Muscle	Psoas
15	chr1:154405600-154413600	Weak transcription	Thymus	Thymus
16	chr1:154405800-154410600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:154405800-154410600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:154405800-154410800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:154405800-154411400	Weak transcription	HepG2	liver
20	chr1:154406000-154411400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:154406000-154412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:154406000-154423200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:154406200-154410600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:154406200-154410800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:154406200-154411000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:154406200-154412600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:154406200-154417600	Weak transcription	Hela-S3	cervix
28	chr1:154406200-154425600	Weak transcription	Primary B cells from cord blood	blood
29	chr1:154406400-154410600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:154406400-154414000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:154406600-154410400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:154406800-154409200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:154406800-154409400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:154407000-154409200	Genic enhancers	Lung	lung
35	chr1:154407200-154409000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:154407200-154409200	Strong transcription	Pancreas	Pancrea
37	chr1:154407200-154409600	Genic enhancers	NHEK	skin
38	chr1:154407200-154410400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:154407200-154410600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:154407200-154410800	Weak transcription	Fetal Thymus	thymus
41	chr1:154407200-154413600	Weak transcription	HMEC	breast
42	chr1:154407200-154414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:154407400-154409200	Enhancers	Right Atrium	heart
44	chr1:154407400-154414200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:154407400-154414400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:154407400-154414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:154407400-154416200	Genic enhancers	Liver	Liver
48	chr1:154407400-154417400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:154407600-154409200	Strong transcription	Gastric	stomach
50	chr1:154407600-154409200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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