Variant report

Variant	rs61828068
Chromosome Location	chr1:174731998-174731999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174731445..174732972-chr1:174968498..174970769,2	K562	blood:
2	chr1:174729839..174732288-chr1:174778725..174780565,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10157872	0.80[EUR][1000 genomes]
rs10158096	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494493	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912849	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10912850	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12063802	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12065854	0.82[EUR][1000 genomes]
rs12066247	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12068637	0.83[EUR][1000 genomes]
rs12087589	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12563930	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12565810	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12566477	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12568182	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs16847257	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16847271	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847402	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16847450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16847563	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2072758	1.00[AFR][1000 genomes]
rs34952844	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35216639	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs41524947	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57353443	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57366106	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61439796	0.81[EUR][1000 genomes]
rs61826887	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61826888	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61826902	1.00[AFR][1000 genomes]
rs61826904	1.00[AFR][1000 genomes]
rs61826909	0.86[EUR][1000 genomes]
rs61826913	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61826917	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61826918	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61826923	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61826924	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61826925	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61826941	0.90[EUR][1000 genomes]
rs61826942	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826949	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826950	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826951	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826952	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826953	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826956	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826957	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826959	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828062	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828065	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828087	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828088	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61828117	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828121	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828143	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828144	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61828149	0.87[AFR][1000 genomes]
rs61828156	1.00[AFR][1000 genomes]
rs7523516	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548197	chr1:174731596-174741017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61828068	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174706200-174734000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:174711800-174745600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174712400-174735000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:174720200-174733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174720200-174739000	Weak transcription	GM12878-XiMat	blood
6	chr1:174723200-174739000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174729400-174733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:174730400-174733600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:174730400-174735800	Weak transcription	Gastric	stomach
10	chr1:174731400-174734200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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