Variant report

Variant	rs60551050
Chromosome Location	chr1:173953860-173953861
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	chr1:173946530..173949481-chr1:173953639..173956535,2	MCF-7	breast:
2	chr1:173835118..173837073-chr1:173951885..173954734,2	K562	blood:

Variant related genes	Relation type
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10127823	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10494491	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10912702	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912710	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912716	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912717	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912721	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11489771	0.83[EUR][1000 genomes]
rs12029025	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12058585	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12060191	0.84[EUR][1000 genomes]
rs12060331	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12060401	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12063266	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12063818	0.84[EUR][1000 genomes]
rs12067580	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12069129	0.91[ASN][1000 genomes]
rs12071784	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12072602	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12072905	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12077782	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12077812	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12083593	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12085939	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12086019	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12086826	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12087212	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12089005	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12089405	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12093885	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12562588	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562959	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12563156	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12565352	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12565973	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12566022	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566642	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566651	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12566842	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1321637	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1322776	0.82[EUR][1000 genomes]
rs1322778	0.83[EUR][1000 genomes]
rs1322779	0.83[EUR][1000 genomes]
rs13375205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407126	0.82[EUR][1000 genomes]
rs1407596	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1407597	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16828467	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16846641	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16846667	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16846688	0.82[EUR][1000 genomes]
rs1987871	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987872	0.85[ASN][1000 genomes]
rs1987873	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2009083	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2025241	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2227588	0.89[EUR][1000 genomes]
rs2227590	0.91[EUR][1000 genomes]
rs2227593	0.91[EUR][1000 genomes]
rs2227594	0.90[EUR][1000 genomes]
rs2227595	0.90[EUR][1000 genomes]
rs2227597	0.91[EUR][1000 genomes]
rs2227601	0.89[EUR][1000 genomes]
rs2227612	0.87[EUR][1000 genomes]
rs2295958	0.87[EUR][1000 genomes]
rs28595073	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2860841	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2860845	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2901784	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36013663	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3980286	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4536054	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652283	0.81[EUR][1000 genomes]
rs4652298	0.84[EUR][1000 genomes]
rs4652328	0.84[EUR][1000 genomes]
rs56926540	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57849055	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57995528	0.84[EUR][1000 genomes]
rs58092103	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58700482	0.89[AFR][1000 genomes]
rs59520434	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59960208	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60265316	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61826771	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826777	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826779	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826780	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826784	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826785	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826823	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826824	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826826	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826829	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826831	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827889	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61827904	0.82[EUR][1000 genomes]
rs61827928	0.83[EUR][1000 genomes]
rs61827930	0.83[EUR][1000 genomes]
rs61827932	0.83[EUR][1000 genomes]
rs61827933	0.83[EUR][1000 genomes]
rs61827934	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827935	0.83[EUR][1000 genomes]
rs61827936	0.87[EUR][1000 genomes]
rs61827938	0.90[EUR][1000 genomes]
rs61827956	0.91[EUR][1000 genomes]
rs61827957	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61827959	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61828895	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828898	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828899	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828900	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828901	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425262	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425263	0.89[AFR][1000 genomes]
rs6425264	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425266	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6425267	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425271	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425272	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657380	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6661182	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6665720	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665880	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6668543	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676307	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6677446	0.89[AFR][1000 genomes]
rs6680088	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6683276	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684527	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688176	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6695887	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695940	0.90[EUR][1000 genomes]
rs6698123	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6702454	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6703547	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677	0.86[EUR][1000 genomes]
rs724416	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73039035	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7523504	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528380	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7530661	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547880	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549291	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767053	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9283385	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9286896	0.91[EUR][1000 genomes]
rs9425431	0.84[EUR][1000 genomes]
rs9425433	0.84[EUR][1000 genomes]
rs9425434	0.84[EUR][1000 genomes]
rs9425436	0.88[EUR][1000 genomes]
rs9425762	0.84[EUR][1000 genomes]
rs9425773	0.83[ASN][1000 genomes]
rs9425775	0.84[ASN][1000 genomes]
rs9425779	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9425780	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs961148	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965498	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9728376	0.95[EUR][1000 genomes];0.88[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	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
5	nsv872550	chr1:173913804-173964206	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60551050	SERPINC1	cis	lung	GTEx
rs60551050	SERPINC1	cis	Thyroid	GTEx
rs60551050	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:173900800-173963800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:173901400-173962200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:173901600-173966400	Strong transcription	Dnd41	blood
11	chr1:173902200-173954600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:173902600-173954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:173904800-173954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:173905000-173962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:173905200-173954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:173906000-173959000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:173906800-173959000	Strong transcription	Liver	Liver
19	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
21	chr1:173922200-173954000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:173923400-173954400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:173923400-173962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:173923800-173954400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:173923800-173955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:173927600-173954200	Strong transcription	Placenta	Placenta
27	chr1:173929000-173962200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:173931200-173962400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:173931200-173962400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:173931200-173965600	Weak transcription	Small Intestine	intestine
31	chr1:173931200-173969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:173932200-173954000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:173933200-173954600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:173938200-173955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:173938800-173954000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:173938800-173954800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:173940600-173954400	Strong transcription	Fetal Brain Female	brain
38	chr1:173941000-173965000	Strong transcription	Fetal Thymus	thymus
39	chr1:173941200-173954800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:173941200-173958600	Strong transcription	Adipose Nuclei	Adipose
41	chr1:173941400-173954200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:173941400-173954200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:173941400-173954200	Strong transcription	K562	blood
44	chr1:173942200-173967400	Weak transcription	Fetal Heart	heart
45	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
46	chr1:173942600-173954000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:173943400-173954400	Strong transcription	Primary T cells from cord blood	blood
48	chr1:173943800-173954200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:173945000-173954400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:173945000-173955400	Strong transcription	HSMM	muscle

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