Variant report

Variant	rs12568182
Chromosome Location	chr1:174570467-174570468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10157872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10158096	0.84[EUR][1000 genomes]
rs10494493	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12563930	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12564992	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12565430	0.86[ASN][1000 genomes]
rs12565810	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16847257	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16847271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16847402	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16847450	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1964103	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072758	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34952844	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35216639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41524947	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56674178	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57353443	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61439796	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826863	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61826865	0.83[ASN][1000 genomes]
rs61826867	0.85[ASN][1000 genomes]
rs61826868	0.88[ASN][1000 genomes]
rs61826869	0.88[ASN][1000 genomes]
rs61826873	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61826876	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61826877	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61826879	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61826881	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61826882	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61826883	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61826887	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826888	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826902	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826903	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826904	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61826913	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826917	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826921	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826923	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826924	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61826925	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61826941	0.91[EUR][1000 genomes]
rs61826942	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs61826949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826950	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826951	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826952	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826953	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826956	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826957	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826959	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828062	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828064	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61828065	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828068	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61828081	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61828087	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61828088	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61828645	0.83[ASN][1000 genomes]
rs61828653	0.84[ASN][1000 genomes]
rs61828654	0.86[AMR][1000 genomes]
rs7523516	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	nsv999295	chr1:174457532-174596961	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3434296	chr1:174556344-174594264	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12568182	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
2	chr1:174555000-174574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:174555000-174575000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:174566800-174586600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:174568200-174572800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:174568400-174572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:174568400-174572400	Weak transcription	Thymus	Thymus
8	chr1:174568400-174588800	Weak transcription	Esophagus	oesophagus
9	chr1:174568600-174574200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:174569000-174571600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174569200-174572000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:174569800-174571200	Weak transcription	Adipose Nuclei	Adipose
13	chr1:174569800-174571400	Strong transcription	Primary T cells from cord blood	blood
14	chr1:174569800-174573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:174570000-174572400	Weak transcription	Pancreas	Pancrea
16	chr1:174570200-174572400	Weak transcription	Ovary	ovary
17	chr1:174570200-174572600	Weak transcription	Lung	lung
18	chr1:174570400-174572400	Weak transcription	Fetal Stomach	stomach
19	chr1:174570400-174572400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:174570400-174575800	Weak transcription	Gastric	stomach

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