Variant report

Variant	rs17115683
Chromosome Location	chr1:57844265-57844266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10159302	1.00[ASN][1000 genomes]
rs10493218	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800574	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803541	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807631	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424471	1.00[ASN][1000 genomes]
rs1424472	1.00[ASN][1000 genomes]
rs17096836	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115722	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115739	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17115757	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778031	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838097	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981891	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35664891	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738552	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850553	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850554	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309005	1.00[ASN][1000 genomes]
rs4912242	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912245	0.92[EUR][1000 genomes]
rs507466	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524941	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60790797	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657926	1.00[ASN][1000 genomes]
rs72909225	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909227	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909233	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909243	1.00[ASN][1000 genomes]
rs72909245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541150	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541309	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv954	chr1:57823140-57865799	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57837400-57847600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:57843000-57845200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:57843400-57847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:57843600-57847400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:57843800-57847000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:57843800-57847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:57843800-57847400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:57844000-57846600	Weak transcription	Fetal Brain Male	brain
9	chr1:57844000-57846800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57844000-57847400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:57844000-57847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:57844000-57847600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:57844000-57848000	Weak transcription	Fetal Heart	heart
14	chr1:57844200-57844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57844200-57844400	Enhancers	Fetal Brain Female	brain
16	chr1:57844200-57847600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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