Variant report

Variant	rs61828631
Chromosome Location	chr1:174311999-174312000
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12562344	0.87[AFR][1000 genomes]
rs12564848	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12564858	1.00[AFR][1000 genomes]
rs12564876	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12564992	0.82[ASN][1000 genomes]
rs12565430	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12565675	1.00[AFR][1000 genomes]
rs12567854	1.00[AFR][1000 genomes]
rs12567864	1.00[AFR][1000 genomes]
rs12568869	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12737218	0.87[AFR][1000 genomes]
rs1407126	1.00[AFR][1000 genomes]
rs16828467	1.00[AFR][1000 genomes]
rs16846688	1.00[AFR][1000 genomes]
rs1964103	0.84[ASN][1000 genomes]
rs2015075	1.00[AFR][1000 genomes]
rs2072758	0.81[ASN][1000 genomes]
rs41265242	1.00[AFR][1000 genomes]
rs4140468	1.00[AFR][1000 genomes]
rs56674178	0.81[ASN][1000 genomes]
rs57651489	0.80[ASN][1000 genomes]
rs58866024	0.81[ASN][1000 genomes]
rs60005461	0.81[ASN][1000 genomes]
rs61439796	0.84[ASN][1000 genomes]
rs61826863	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826865	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826867	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826868	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826869	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826873	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826876	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826877	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826879	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826881	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826882	0.82[ASN][1000 genomes]
rs61826887	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826888	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61827889	1.00[AFR][1000 genomes]
rs61827900	1.00[AFR][1000 genomes]
rs61827901	1.00[AFR][1000 genomes]
rs61827902	1.00[AFR][1000 genomes]
rs61827903	1.00[AFR][1000 genomes]
rs61827904	1.00[AFR][1000 genomes]
rs61827905	1.00[AFR][1000 genomes]
rs61828571	1.00[AFR][1000 genomes]
rs61828575	1.00[AFR][1000 genomes]
rs61828576	1.00[AFR][1000 genomes]
rs61828578	1.00[AFR][1000 genomes]
rs61828580	1.00[AFR][1000 genomes]
rs61828583	1.00[AFR][1000 genomes]
rs61828584	1.00[AFR][1000 genomes]
rs61828587	1.00[AFR][1000 genomes]
rs61828589	1.00[AFR][1000 genomes]
rs61828590	1.00[AFR][1000 genomes]
rs61828591	1.00[AFR][1000 genomes]
rs61828592	1.00[AFR][1000 genomes]
rs61828595	1.00[AFR][1000 genomes]
rs61828622	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61828624	0.82[ASN][1000 genomes]
rs61828625	1.00[AFR][1000 genomes]
rs61828627	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61828630	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828635	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828641	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828645	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61828652	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61828653	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61828654	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9970174	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][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	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1008993	chr1:174180019-174331358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv1795045	chr1:174273004-174346276	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61828631	SERPINC1	cis	Thyroid	GTEx
rs61828631	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174296800-174322000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174298000-174361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:174303600-174313000	Weak transcription	Left Ventricle	heart
4	chr1:174309600-174313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:174310000-174316800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174310600-174362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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