Variant report

Variant	rs12092774
Chromosome Location	chr1:174021310-174021311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174019496..174021391-chr1:174967353..174969548,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10798302	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912719	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063313	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12066153	0.89[ASN][1000 genomes]
rs12076799	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12096785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097809	0.90[ASN][1000 genomes]
rs12563395	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12568409	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13375086	0.89[ASN][1000 genomes]
rs13376011	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16846683	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1884994	0.89[ASN][1000 genomes]
rs4592301	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56247945	0.89[ASN][1000 genomes]
rs61547493	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826843	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826844	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61827891	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61827894	0.84[EUR][1000 genomes]
rs6425273	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425275	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6661868	0.84[ASN][1000 genomes]
rs6665484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6673632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6677660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6678487	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6686083	0.90[ASN][1000 genomes]
rs6689285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695327	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6696163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs714624	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7413166	0.89[ASN][1000 genomes]
rs7511780	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7514069	0.82[ASN][1000 genomes]
rs7538312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547280	0.89[ASN][1000 genomes]
rs7554915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12092774	SERPINC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174020800-174021600	Enhancers	Psoas Muscle	Psoas
2	chr1:174021000-174021400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:174021000-174021400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:174021000-174021400	Active TSS	Brain Anterior Caudate	brain
5	chr1:174021000-174021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:174021000-174021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:174021000-174021600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:174021000-174021600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:174021000-174021600	Active TSS	Brain Substantia Nigra	brain
10	chr1:174021000-174021600	Enhancers	HSMM	muscle
11	chr1:174021000-174022000	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:174021000-174023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:174021200-174021600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:174021200-174021600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:174021200-174021600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:174021200-174021600	Active TSS	NH-A	brain
17	chr1:174021200-174022200	Active TSS	Brain Hippocampus Middle	brain

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