Variant report

Variant	rs1835048
Chromosome Location	chr5:118131950-118131951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1110512	0.90[ASN][1000 genomes]
rs12109024	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12110125	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12110151	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12110310	0.90[ASN][1000 genomes]
rs1559072	0.93[ASN][1000 genomes]
rs17144517	0.84[ASN][1000 genomes]
rs17144523	0.84[ASN][1000 genomes]
rs17144550	0.87[ASN][1000 genomes]
rs17144554	0.90[ASN][1000 genomes]
rs17144584	0.90[ASN][1000 genomes]
rs17144626	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17144630	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17144660	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2376850	0.86[EUR][1000 genomes]
rs34694285	0.84[ASN][1000 genomes]
rs56283865	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595162	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595164	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6868863	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6897505	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs721065	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs721066	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73251330	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73789377	0.87[ASN][1000 genomes]
rs7719304	0.90[ASN][1000 genomes]
rs888710	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
4	chr5:118130400-118135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118130800-118132600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:118131000-118132200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:118131200-118132000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:118131200-118132200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:118131200-118132400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:118131200-118132400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:118131200-118132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:118131200-118132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:118131400-118132000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:118131400-118132000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:118131400-118132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:118131600-118132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118131600-118132400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:118131600-118132400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:118131800-118132000	Enhancers	Fetal Stomach	stomach
20	chr5:118131800-118132000	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:118131800-118132400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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