Variant report

Variant	rs592609
Chromosome Location	chr1:97711452-97711453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12564297	0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12735722	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs12738234	0.86[ASN][1000 genomes]
rs1413227	0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs1413235	0.83[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1970142	0.84[EUR][1000 genomes]
rs4412640	0.85[CHB][hapmap]
rs494271	0.83[TSI][hapmap]
rs4950025	0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs496179	0.81[TSI][hapmap]
rs505864	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs533365	0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs542490	0.80[EUR][1000 genomes]
rs595937	0.84[EUR][1000 genomes]
rs6697132	0.83[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs688913	0.84[EUR][1000 genomes]
rs7537668	0.83[TSI][hapmap]
rs885622	0.83[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][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	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	nsv470728	chr1:97703325-97761972	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97694800-97712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:97699400-97723600	Weak transcription	Lung	lung
3	chr1:97699600-97729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:97700000-97717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:97700600-97712200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97700600-97723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:97700600-97733000	Weak transcription	Dnd41	blood
8	chr1:97700800-97712400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:97701000-97712600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:97706400-97717800	Weak transcription	Liver	Liver
11	chr1:97710000-97712200	Enhancers	Fetal Heart	heart
12	chr1:97710600-97712000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:97710800-97711600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:97710800-97711600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:97710800-97711600	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:97710800-97712000	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:97711000-97711600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:97711200-97711600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:97711200-97711600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:97711200-97711600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:97711200-97711600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:97711200-97711600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:97711200-97711600	Active TSS	Brain Hippocampus Middle	brain
24	chr1:97711200-97711600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:97711200-97711600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:97711200-97711600	Active TSS	NHDF-Ad	bronchial
27	chr1:97711200-97711600	Flanking Active TSS	Osteobl	bone
28	chr1:97711200-97711800	Weak transcription	Fetal Intestine Large	intestine
29	chr1:97711200-97711800	Enhancers	Small Intestine	intestine
30	chr1:97711200-97712200	Enhancers	Colon Smooth Muscle	Colon
31	chr1:97711200-97713800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:97711400-97711600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:97711400-97711600	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr1:97711400-97712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:97711400-97712000	Enhancers	Right Atrium	heart
36	chr1:97711400-97712200	Enhancers	Left Ventricle	heart

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