Variant report

Variant	rs17023394
Chromosome Location	chr1:119838384-119838385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10923797	0.80[EUR][1000 genomes]
rs12027042	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028385	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12029794	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029989	0.96[EUR][1000 genomes]
rs12030458	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036875	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12037207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037553	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12038914	0.96[EUR][1000 genomes]
rs12040905	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122400	0.80[EUR][1000 genomes]
rs1418023	0.81[EUR][1000 genomes]
rs17023431	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653769	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56701958	0.96[EUR][1000 genomes]
rs6656857	0.81[EUR][1000 genomes]
rs6656910	0.96[EUR][1000 genomes]
rs6658706	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660736	0.96[EUR][1000 genomes]
rs6663841	0.96[EUR][1000 genomes]
rs6672204	0.96[EUR][1000 genomes]
rs6695549	0.84[EUR][1000 genomes]
rs72691149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691153	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72691158	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72691161	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7514708	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv547615	chr1:119828542-119875730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119823000-119840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:119835800-119838400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:119835800-119839000	Enhancers	Fetal Kidney	kidney
4	chr1:119837000-119846200	Weak transcription	Liver	Liver
5	chr1:119837200-119841200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:119837200-119841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:119837400-119838400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:119837400-119838400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:119837400-119838400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:119837800-119840800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:119837800-119841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:119838000-119840600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:119838000-119841000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:119838200-119838400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:119838200-119840800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:119838200-119846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:119838200-119846200	Weak transcription	HepG2	liver

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