Variant report

Variant	rs1061147
Chromosome Location	chr1:196654324-196654325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1061170	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10733086	0.93[GIH][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap]
rs10754199	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801553	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801554	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801555	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801556	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801557	0.85[EUR][1000 genomes]
rs10922092	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10922094	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922098	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10922099	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10922100	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10922102	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10922103	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029785	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12033127	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12038333	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038674	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045503	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1329421	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1329422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1329424	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410997	0.93[GIH][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap]
rs1831282	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.87[ASN][1000 genomes]
rs1887973	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2019724	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.87[ASN][1000 genomes]
rs203674	1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs203677	0.87[ASN][1000 genomes]
rs203679	0.87[ASN][1000 genomes]
rs203680	0.87[ASN][1000 genomes]
rs203683	0.87[ASN][1000 genomes]
rs203685	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs203687	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs203688	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2300430	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2860102	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28664709	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28853072	0.84[EUR][1000 genomes]
rs36137052	0.84[EUR][1000 genomes]
rs3645	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs368465	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs374896	0.82[ASN][1000 genomes]
rs379489	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs380390	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs381974	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs393955	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs395544	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs395998	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs399469	0.87[ASN][1000 genomes]
rs400642	0.82[CHB][hapmap]
rs402056	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403846	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs412852	0.82[ASN][1000 genomes]
rs414539	0.82[ASN][1000 genomes]
rs4658046	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs482934	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs485632	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488380	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514943	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs528298	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs529899	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs570618	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs572515	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579745	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6428357	0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.87[ASN][1000 genomes]
rs7529589	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9970075	0.85[ASN][1000 genomes]
rs9970784	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv1010642	chr1:196629637-196874948	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv535258	chr1:196629637-196874948	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv872962	chr1:196632470-196692659	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv872964	chr1:196635470-196660965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv818733	chr1:196642233-196660261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv872965	chr1:196642233-196779888	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv872966	chr1:196642980-196658279	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv1792035	chr1:196646261-196655743	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv818744	chr1:196651832-196660261	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv872968	chr1:196652622-196685671	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv825997	chr1:196652964-196654460	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Age-related macular degeneration	23326517	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1061147	ZBTB41	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:196641400-196665800	Strong transcription	Liver	Liver
9	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
11	chr1:196646000-196678400	Weak transcription	K562	blood
12	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
13	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:196648200-196661200	Weak transcription	NHLF	lung
15	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
16	chr1:196648200-196666600	Weak transcription	NH-A	brain
17	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:196649600-196707200	Weak transcription	Osteobl	bone
20	chr1:196650000-196654800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:196653200-196654800	Weak transcription	Fetal Kidney	kidney
23	chr1:196653200-196656800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:196653600-196660600	Strong transcription	Dnd41	blood
25	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:196653800-196656600	Strong transcription	HSMM	muscle
27	chr1:196653800-196669600	Weak transcription	Lung	lung
28	chr1:196654000-196655200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr1:196654200-196655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:196654200-196655400	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:196654200-196655600	Strong transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links