Variant report

Variant	rs16832366
Chromosome Location	chr1:190449380-190449381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10429905	0.93[CEU][hapmap]
rs10800941	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10920705	0.93[CEU][hapmap]
rs10920711	0.86[CEU][hapmap]
rs10920715	0.93[CEU][hapmap]
rs10920716	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10920719	0.81[ASN][1000 genomes]
rs10920720	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs10920722	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10920724	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10920725	0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10920726	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025018	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs12030570	0.85[CEU][hapmap]
rs12035557	0.85[CEU][hapmap]
rs12040733	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12042770	0.86[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043892	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12058205	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12058472	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12065497	0.93[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap]
rs12078918	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12082492	0.93[CEU][hapmap];0.86[GIH][hapmap]
rs12089382	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12091129	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12093056	0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12095592	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12097042	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12724000	0.93[CEU][hapmap]
rs12732361	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12732902	0.93[CEU][hapmap]
rs1442568	0.93[CEU][hapmap]
rs1442569	0.93[CEU][hapmap]
rs16832305	0.93[CEU][hapmap]
rs16832345	0.82[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2047704	0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs34302050	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3931875	0.93[CEU][hapmap]
rs4845237	0.93[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]
rs6658194	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6660355	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6664710	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs6691910	0.93[CEU][hapmap]
rs71522434	0.88[EUR][1000 genomes]
rs72731179	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7527690	0.92[CEU][hapmap]
rs7547903	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs980043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872761	chr1:190389741-190485034	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv872762	chr1:190389741-190510003	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv872763	chr1:190389741-190531642	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv872764	chr1:190399946-190531642	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv872765	chr1:190418653-190464647	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466750	chr1:190433413-190496007	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv548551	chr1:190433413-190496007	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv466761	chr1:190433413-190545283	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv548552	chr1:190433413-190545283	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv466772	chr1:190446253-190492280	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv548553	chr1:190446253-190492280	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190443000-190449600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:190446200-190449600	Active TSS	Brain Anterior Caudate	brain
3	chr1:190446200-190450000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190447000-190449400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:190448600-190450200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:190448600-190452200	Weak transcription	Right Atrium	heart
7	chr1:190448800-190449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:190448800-190449600	Active TSS	Brain Angular Gyrus	brain
9	chr1:190448800-190449600	Enhancers	Fetal Heart	heart
10	chr1:190448800-190449800	Enhancers	Fetal Intestine Small	intestine
11	chr1:190449000-190449400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:190449000-190449600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:190449000-190449800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:190449000-190449800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:190449000-190449800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:190449000-190449800	Enhancers	Fetal Intestine Large	intestine
17	chr1:190449000-190453200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:190449200-190449600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:190449200-190449800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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