Variant report

Variant	rs2335780
Chromosome Location	chr18:39919694-39919695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12958459	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12958679	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1841620	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1841621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993752	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085909	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34642158	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs346455	0.83[EUR][1000 genomes]
rs391148	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs413718	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414142	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415805	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415810	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs421436	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428198	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436343	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449040	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs454565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4621064	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66967065	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68001532	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7232300	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7232594	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7235999	0.89[AMR][1000 genomes]
rs7237280	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8085980	0.81[AMR][1000 genomes]
rs8090017	0.88[AMR][1000 genomes]
rs922266	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976071	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9947788	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9947988	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9948169	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9959948	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9960132	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9964453	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39916400-39921400	Enhancers	Liver	Liver
2	chr18:39916800-39922200	Enhancers	HepG2	liver
3	chr18:39917000-39923000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:39917200-39922000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:39917800-39921000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:39918000-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:39918000-39920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:39918200-39920000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:39918200-39920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr18:39918200-39920800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr18:39918200-39921000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:39918400-39920000	Enhancers	Fetal Intestine Large	intestine
13	chr18:39918400-39920800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:39918400-39921400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr18:39918600-39920200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:39918600-39920400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:39918800-39919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:39918800-39919800	Enhancers	Fetal Intestine Small	intestine
19	chr18:39918800-39920800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:39919000-39920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr18:39919000-39920400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:39919400-39920000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:39919600-39920200	Enhancers	Brain Anterior Caudate	brain

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