Variant report

Variant	rs12565810
Chromosome Location	chr1:174622035-174622036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10157872	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10158096	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10494493	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12563930	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12564992	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12566477	1.00[AFR][1000 genomes]
rs12568182	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];0.88[ASN][1000 genomes]
rs16847271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847402	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847450	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1964103	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2072758	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34952844	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35216639	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41524947	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56674178	0.85[ASN][1000 genomes]
rs57353443	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61439796	0.82[ASN][1000 genomes]
rs61826879	0.80[ASN][1000 genomes]
rs61826881	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs61826882	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs61826883	1.00[AFR][1000 genomes]
rs61826887	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61826888	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61826902	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61826903	0.84[ASN][1000 genomes]
rs61826904	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826909	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826913	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826917	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826921	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826923	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826924	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826925	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826941	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61826942	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61826950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61826951	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826952	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826953	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826956	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826957	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826959	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828062	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828064	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61828065	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828068	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61828081	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61828087	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828088	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828121	1.00[AFR][1000 genomes]
rs7523516	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	esv1803591	chr1:174594575-174642336	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12565810	SERPINC1	cis	Muscle Skeletal	GTEx
rs12565810	SERPINC1	cis	Thyroid	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:174612400-174638200	Weak transcription	Aorta	Aorta
5	chr1:174613600-174637000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:174617800-174625800	Weak transcription	HepG2	liver
7	chr1:174621600-174622200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:174621600-174622200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:174621600-174622200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:174621600-174622200	Genic enhancers	Fetal Intestine Small	intestine
11	chr1:174621600-174622200	Enhancers	Lung	lung
12	chr1:174621600-174622400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:174621600-174622800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:174621600-174622800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:174621600-174623400	Enhancers	Left Ventricle	heart
16	chr1:174621600-174625200	Enhancers	Fetal Lung	lung
17	chr1:174621800-174622200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:174621800-174622200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:174621800-174622200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:174621800-174622800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:174621800-174622800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:174621800-174622800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:174621800-174623000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:174621800-174623000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:174621800-174623200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:174621800-174623200	Enhancers	Fetal Heart	heart
27	chr1:174622000-174622200	Enhancers	Fetal Brain Male	brain
28	chr1:174622000-174622800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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