Variant report

Variant	rs73490144
Chromosome Location	chr13:51799447-51799448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51793406..51795432-chr13:51797315..51800295,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINE3-4	chr13:51799257-51799492	NONHSAT033893

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11838593	1.00[EUR][1000 genomes]
rs11841027	1.00[EUR][1000 genomes]
rs11841154	1.00[EUR][1000 genomes]
rs11843842	1.00[EUR][1000 genomes]
rs1475378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011760	1.00[EUR][1000 genomes]
rs57325570	1.00[EUR][1000 genomes]
rs57546351	1.00[EUR][1000 genomes]
rs57856090	1.00[EUR][1000 genomes]
rs57873646	1.00[EUR][1000 genomes]
rs58004754	1.00[EUR][1000 genomes]
rs58286739	1.00[EUR][1000 genomes]
rs58791839	1.00[EUR][1000 genomes]
rs58955860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59146135	1.00[EUR][1000 genomes]
rs59439755	1.00[EUR][1000 genomes]
rs59488627	1.00[EUR][1000 genomes]
rs59816449	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61016784	1.00[EUR][1000 genomes]
rs61041802	1.00[EUR][1000 genomes]
rs61075891	1.00[EUR][1000 genomes]
rs61520022	1.00[EUR][1000 genomes]
rs61539526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317441	1.00[EUR][1000 genomes]
rs7323479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323723	1.00[EUR][1000 genomes]
rs7324083	1.00[EUR][1000 genomes]
rs7333250	1.00[EUR][1000 genomes]
rs73488042	1.00[EUR][1000 genomes]
rs73488047	1.00[EUR][1000 genomes]
rs73488050	1.00[EUR][1000 genomes]
rs73488064	1.00[EUR][1000 genomes]
rs73488066	1.00[EUR][1000 genomes]
rs73488070	1.00[EUR][1000 genomes]
rs73488072	0.82[AFR][1000 genomes]
rs73488073	1.00[EUR][1000 genomes]
rs73488076	1.00[EUR][1000 genomes]
rs73488091	1.00[EUR][1000 genomes]
rs73488094	1.00[EUR][1000 genomes]
rs73488097	1.00[EUR][1000 genomes]
rs73490136	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490160	1.00[AMR][1000 genomes]
rs73490161	1.00[AMR][1000 genomes]
rs73490165	1.00[AMR][1000 genomes]
rs73490186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7994215	1.00[EUR][1000 genomes]
rs7997296	1.00[EUR][1000 genomes]
rs7997385	1.00[EUR][1000 genomes]
rs9316538	1.00[EUR][1000 genomes]
rs9596451	1.00[EUR][1000 genomes]
rs9596500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51797200-51803200	Weak transcription	Spleen	Spleen
2	chr13:51797400-51803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:51797400-51804600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:51797400-51804800	Weak transcription	Aorta	Aorta
5	chr13:51797600-51804400	Weak transcription	NHLF	lung
6	chr13:51797800-51803400	Weak transcription	Fetal Lung	lung
7	chr13:51797800-51803400	Weak transcription	HUVEC	blood vessel
8	chr13:51797800-51804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:51797800-51806000	Enhancers	Fetal Brain Male	brain
10	chr13:51798000-51803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:51798000-51804000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:51798200-51799600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:51798200-51799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:51798200-51799800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:51798200-51804600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:51798400-51802600	Weak transcription	Brain Germinal Matrix	brain
17	chr13:51798400-51802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:51798400-51803200	Weak transcription	Left Ventricle	heart
19	chr13:51798400-51804800	Weak transcription	Lung	lung
20	chr13:51798600-51799600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:51798600-51799600	Enhancers	Brain Anterior Caudate	brain
22	chr13:51798600-51799800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:51798600-51799800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr13:51798600-51800600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr13:51798800-51799600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:51798800-51799600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:51798800-51800000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
28	chr13:51798800-51800400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr13:51799000-51799600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:51799000-51799600	Enhancers	Brain Angular Gyrus	brain
31	chr13:51799000-51799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:51799200-51799600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr13:51799200-51799600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
34	chr13:51799200-51799600	Enhancers	Fetal Brain Female	brain
35	chr13:51799200-51799800	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:51799200-51800200	Enhancers	Fetal Heart	heart
37	chr13:51799200-51800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:51799200-51801000	Genic enhancers	H9 Cell Line	embryonic stem cell
39	chr13:51799200-51801400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
40	chr13:51799200-51802000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr13:51799200-51803000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:51799200-51803000	Weak transcription	Psoas Muscle	Psoas
43	chr13:51799400-51799600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr13:51799400-51799600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:51799400-51799800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr13:51799400-51799800	Genic enhancers	Colon Smooth Muscle	Colon
47	chr13:51799400-51799800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:51799400-51800600	Genic enhancers	Brain Hippocampus Middle	brain
49	chr13:51799400-51800800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:51799400-51800800	Genic enhancers	Brain Substantia Nigra	brain

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