Variant report

Variant	rs17551181
Chromosome Location	chr4:21598450-21598451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10021380	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1021862	0.86[CHB][hapmap]
rs10516394	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10938847	0.86[CHB][hapmap]
rs10938851	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1105376	0.81[ASN][1000 genomes]
rs1105377	0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1105378	0.81[ASN][1000 genomes]
rs11728537	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12505463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12508153	0.90[ASN][1000 genomes]
rs13110918	1.00[JPT][hapmap]
rs13146325	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13146424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1394137	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs1394139	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs1460473	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1503993	0.94[ASN][1000 genomes]
rs1503994	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17485934	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17486399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17487317	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17549122	0.87[EUR][1000 genomes]
rs17557643	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17559457	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1814167	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1827595	1.00[JPT][hapmap]
rs1841366	0.82[EUR][1000 genomes]
rs1847424	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1910524	0.90[ASN][1000 genomes]
rs1910525	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1910526	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2221380	0.81[ASN][1000 genomes]
rs28636012	0.87[EUR][1000 genomes]
rs34413196	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34488331	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35149530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35310146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35433933	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35709055	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35823075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs358836	1.00[CHB][hapmap]
rs358839	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs3913663	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4572864	0.94[ASN][1000 genomes]
rs4572865	0.94[ASN][1000 genomes]
rs56069015	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448061	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6448063	0.88[CHD][hapmap]
rs7657068	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7661478	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7664902	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7665351	0.86[CHB][hapmap]
rs7675686	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7683386	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7684272	0.86[CHB][hapmap]
rs871500	0.81[ASN][1000 genomes]
rs9291428	0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv829880	chr4:21492426-21693816	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008716	chr4:21580423-21633636	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1003426	chr4:21580423-21640350	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv461289	chr4:21588298-21639516	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv593809	chr4:21588298-21639516	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21597200-21598800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:21597400-21598600	Enhancers	Brain Anterior Caudate	brain
3	chr4:21597400-21598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:21597400-21599200	Enhancers	Brain Angular Gyrus	brain
5	chr4:21597600-21598800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:21597600-21598800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:21597600-21599400	Enhancers	Brain Substantia Nigra	brain
8	chr4:21597800-21598800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:21598000-21598600	Enhancers	Fetal Heart	heart
10	chr4:21598000-21598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:21598000-21598800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr4:21598200-21598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:21598200-21598600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:21598200-21598600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:21598200-21598800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:21598200-21598800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr4:21598400-21598600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:21598400-21598800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:21598400-21598800	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr4:21598400-21599200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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