Variant report

Variant	rs56296115
Chromosome Location	chr1:97911857-97911858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12073650	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17376848	0.86[ASN][1000 genomes]
rs7548444	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97847200-97912600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:97861600-97930000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:97868800-97913000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:97872800-97912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:97887600-97922400	Weak transcription	Primary T cells from cord blood	blood
7	chr1:97898800-97913400	Weak transcription	Lung	lung
8	chr1:97898800-97960000	Weak transcription	Left Ventricle	heart
9	chr1:97899000-97925800	Weak transcription	Ovary	ovary
10	chr1:97900200-97916000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:97900400-97914600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:97900800-97921800	Weak transcription	NHDF-Ad	bronchial
13	chr1:97901800-97913200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:97902200-97912600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:97902200-97916800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:97902200-97930000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:97904200-97946800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:97904800-97915800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:97905600-97912600	Weak transcription	Dnd41	blood
20	chr1:97906600-97915800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:97907800-97912600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:97907800-97917000	Weak transcription	Fetal Brain Female	brain
23	chr1:97908600-97917400	Weak transcription	Osteobl	bone
24	chr1:97909200-97915200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:97909200-97932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:97909200-97940600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:97910000-97954000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:97910800-97916600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:97910800-97926600	Weak transcription	Fetal Intestine Large	intestine
30	chr1:97911000-97912600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:97911000-97916800	Weak transcription	Brain Substantia Nigra	brain
32	chr1:97911200-97912600	Weak transcription	Liver	Liver
33	chr1:97911200-97940600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:97911400-97917400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:97911600-97915800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:97911600-97926000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:97911600-97930200	Weak transcription	HSMM	muscle

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