Variant report

Variant	rs73089416
Chromosome Location	chr5:36665556-36665557
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36660067..36662145-chr5:36665514..36667049,2	K562	blood:
2	chr5:36664064..36666093-chr5:36674031..36676428,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1001571	1.00[EUR][1000 genomes]
rs3753180	1.00[EUR][1000 genomes]
rs59385748	1.00[EUR][1000 genomes]
rs61130125	1.00[AMR][1000 genomes]
rs6887511	1.00[AMR][1000 genomes]
rs6892871	1.00[EUR][1000 genomes]
rs73089413	1.00[AMR][1000 genomes]
rs73091691	1.00[AMR][1000 genomes]
rs73093808	1.00[AMR][1000 genomes]
rs7731495	1.00[EUR][1000 genomes]
rs9283743	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655000-36667200	Weak transcription	Fetal Kidney	kidney
2	chr5:36655000-36667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:36655400-36684200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:36655600-36667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:36655800-36671200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:36655800-36671400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:36656000-36670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:36656000-36673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:36656600-36670800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:36658600-36667400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:36658600-36670800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:36658600-36684000	Weak transcription	Esophagus	oesophagus
15	chr5:36658800-36671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:36659000-36671000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:36659000-36671400	Weak transcription	Adipose Nuclei	Adipose
18	chr5:36659000-36689400	Weak transcription	Osteobl	bone
19	chr5:36659400-36669000	Weak transcription	Right Ventricle	heart
20	chr5:36659400-36683400	Weak transcription	NHDF-Ad	bronchial
21	chr5:36659600-36665800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:36661000-36668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:36661200-36667800	Weak transcription	Fetal Lung	lung
24	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
25	chr5:36662600-36669000	Weak transcription	Left Ventricle	heart
26	chr5:36662600-36670800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:36662800-36667800	Weak transcription	HSMM	muscle
28	chr5:36663000-36667600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:36663000-36668400	Weak transcription	Right Atrium	heart
30	chr5:36663000-36668600	Enhancers	Brain Anterior Caudate	brain
31	chr5:36663000-36669600	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:36663000-36669600	Enhancers	Brain Hippocampus Middle	brain
33	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
34	chr5:36663200-36666000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:36663200-36666800	Enhancers	Brain Angular Gyrus	brain
36	chr5:36663200-36667000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:36663200-36667600	Weak transcription	Placenta	Placenta
38	chr5:36663200-36667800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:36663600-36671800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:36663800-36668200	Enhancers	Hela-S3	cervix
41	chr5:36664400-36668800	Enhancers	Fetal Heart	heart
42	chr5:36664600-36665600	Enhancers	NHEK	skin
43	chr5:36664600-36667600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:36664800-36665600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:36664800-36665800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:36664800-36666000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:36664800-36666400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:36664800-36666400	Enhancers	HMEC	breast
49	chr5:36664800-36669200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:36664800-36669200	Enhancers	Brain Substantia Nigra	brain

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