Variant report

Variant	rs16847450
Chromosome Location	chr1:174762322-174762323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174756924..174758922-chr1:174761115..174763759,2	K562	blood:
2	chr1:174761076..174764017-chr1:174764212..174765845,2	MCF-7	breast:
3	chr1:174760005..174762413-chr1:174764252..174765776,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1002125	0.81[AMR][1000 genomes]
rs10158096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10489333	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs10494493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12063802	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12065854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs12066247	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12068637	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12087589	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12563930	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12565810	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12566477	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12568182	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16847257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16847271	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16847402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16847563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16847633	0.92[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs2072758	1.00[AFR][1000 genomes]
rs28660133	0.81[AMR][1000 genomes]
rs34952844	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35216639	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41524947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57353443	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57366106	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826902	1.00[AFR][1000 genomes]
rs61826904	1.00[AFR][1000 genomes]
rs61826909	0.81[EUR][1000 genomes]
rs61826913	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61826917	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61826918	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61826923	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61826924	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61826925	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61826941	0.84[EUR][1000 genomes]
rs61826942	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61826949	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826950	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826951	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826952	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826953	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826956	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826957	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826959	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61828062	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61828064	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828065	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828068	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828081	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61828088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61828117	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61828121	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61828143	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61828144	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828148	0.81[AMR][1000 genomes]
rs61828149	0.87[AFR][1000 genomes]
rs61828151	0.81[AMR][1000 genomes]
rs61828156	1.00[AFR][1000 genomes]
rs7523516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16847450	SERPINC1	cis	multi-tissue	Pritchard
rs16847450	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174752400-174764000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:174752400-174764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:174758200-174768400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174758800-174768000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:174758800-174768200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:174759200-174764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:174759200-174764200	Weak transcription	HMEC	breast
9	chr1:174759200-174764600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:174759400-174764000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:174759400-174764000	Weak transcription	NHEK	skin
12	chr1:174759400-174768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:174759400-174768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:174759400-174768400	Weak transcription	Osteobl	bone
15	chr1:174760000-174764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:174760000-174768400	Weak transcription	HSMMtube	muscle
17	chr1:174761000-174768200	Weak transcription	GM12878-XiMat	blood
18	chr1:174761200-174764400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:174761200-174768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:174761400-174764400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:174761400-174766600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:174761400-174768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:174761400-174768200	Weak transcription	HSMM	muscle
24	chr1:174761400-174768400	Weak transcription	Right Atrium	heart
25	chr1:174761800-174768200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:174762000-174766400	Weak transcription	K562	blood
27	chr1:174762000-174768400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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