Variant report

Variant	rs9312892
Chromosome Location	chr5:15557143-15557144
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	chr5:15555594..15558583-chr5:15570840..15572694,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10065073	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10085170	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10474717	0.83[EUR][1000 genomes]
rs10475067	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516651	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13185365	0.97[ASN][1000 genomes]
rs4144522	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861983	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6862606	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6879834	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6889573	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732619	0.81[AMR][1000 genomes]
rs9312891	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312896	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
2	chr5:15524000-15558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:15541000-15558600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:15544600-15563400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:15545200-15557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:15547800-15557600	Weak transcription	Right Ventricle	heart
8	chr5:15548200-15557800	Weak transcription	Left Ventricle	heart
9	chr5:15548600-15557600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:15551000-15561600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:15551200-15559400	Weak transcription	Fetal Brain Male	brain
12	chr5:15551200-15566200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:15551400-15558400	Weak transcription	Aorta	Aorta
14	chr5:15551400-15566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:15551600-15561400	Weak transcription	Fetal Lung	lung
16	chr5:15551600-15561600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:15551600-15561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:15551800-15557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:15553400-15557200	Weak transcription	Fetal Stomach	stomach
20	chr5:15555000-15557600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:15555000-15557600	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:15555200-15557600	Weak transcription	Fetal Heart	heart
23	chr5:15555400-15557800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:15555600-15557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:15555600-15557600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:15555600-15557600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:15555600-15557600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:15555600-15557600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:15555800-15557600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:15555800-15557600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:15555800-15557600	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:15555800-15562800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:15555800-15571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:15555800-15584200	Weak transcription	HSMM	muscle
35	chr5:15556400-15557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:15556600-15557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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