Variant report

Variant	rs525276
Chromosome Location	chr1:70893391-70893392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70886970..70888577-chr1:70891879..70893523,2	K562	blood:
2	chr1:70875507..70877833-chr1:70893275..70895656,2	K562	blood:
3	chr1:70891788..70893936-chr1:70895573..70898086,2	K562	blood:
4	chr1:70890969..70893451-chr1:70899132..70901559,2	K562	blood:

Variant related genes	Relation type
ENSG00000116761	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1145920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023001	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3856027	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs475263	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs481654	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs543860	1.00[ASN][1000 genomes]
rs559062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596793	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608609	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70877400-70898600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:70877400-70900600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:70877400-70900600	Weak transcription	Lung	lung
4	chr1:70877400-70901800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:70877400-70903400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:70877400-70906400	Weak transcription	Small Intestine	intestine
7	chr1:70877400-70906600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:70878000-70899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:70878000-70903400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:70878200-70899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
14	chr1:70878200-70909600	Weak transcription	Gastric	stomach
15	chr1:70878400-70895400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:70878400-70896600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:70878400-70897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:70878400-70897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:70878400-70897800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:70878400-70899200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:70878400-70901800	Weak transcription	Colonic Mucosa	Colon
22	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:70878600-70894600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:70878600-70896600	Weak transcription	Fetal Lung	lung
25	chr1:70878600-70902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:70878600-70903800	Weak transcription	HSMMtube	muscle
27	chr1:70878600-70906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:70878800-70893800	Weak transcription	Fetal Heart	heart
29	chr1:70878800-70897200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:70878800-70897200	Weak transcription	Dnd41	blood
31	chr1:70878800-70897600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:70878800-70897800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:70878800-70897800	Weak transcription	Right Ventricle	heart
34	chr1:70878800-70899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:70878800-70901000	Weak transcription	Fetal Kidney	kidney
36	chr1:70878800-70902200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:70879000-70896600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:70880000-70897600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:70880200-70896600	Weak transcription	Pancreas	Pancrea
40	chr1:70881800-70897200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:70883400-70896600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:70884400-70895200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:70884400-70897000	Weak transcription	GM12878-XiMat	blood
44	chr1:70884400-70909000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:70884600-70898800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:70884600-70899000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:70884600-70899400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:70884600-70902800	Weak transcription	Osteobl	bone
49	chr1:70885000-70894800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:70886200-70896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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