Variant report

Variant	rs58092103
Chromosome Location	chr1:173954564-173954565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr1:173954462-173954662	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173951363..173953301-chr1:173953950..173956185,2	K562	blood:
2	chr1:173946530..173949481-chr1:173953639..173956535,2	MCF-7	breast:
3	chr1:173951301..173953436-chr1:173954526..173956321,2	K562	blood:
4	chr1:173835118..173837073-chr1:173951885..173954734,2	K562	blood:
5	chr1:173954538..173956167-chr1:173959585..173961567,2	K562	blood:

No data

Variant related genes	Relation type
RC3H1	TF binding region
ENSG00000135870	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10494491	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912702	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10912710	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10912716	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10912717	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12029025	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12058585	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12060331	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12060401	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12063266	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12067580	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12069129	0.84[ASN][1000 genomes]
rs12071784	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12072602	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12072905	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12077812	0.80[ASN][1000 genomes]
rs12083593	0.83[EUR][1000 genomes]
rs12085939	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12086019	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12086826	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12089005	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12089405	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12093885	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12562588	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12562959	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12565352	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565973	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12566022	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12566642	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12566651	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12566842	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1321637	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1322776	0.83[AMR][1000 genomes]
rs13375205	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1407596	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1407597	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16846641	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1987871	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1987872	0.81[ASN][1000 genomes]
rs1987873	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2025241	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2227588	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2227595	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2227612	0.87[AMR][1000 genomes]
rs28595073	0.83[EUR][1000 genomes]
rs2860841	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2860845	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2901784	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36013663	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3980286	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4536054	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56926540	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57849055	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59520434	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59960208	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60551050	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826771	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826774	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826777	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826779	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826780	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826784	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826785	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826823	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826824	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826826	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826829	0.85[EUR][1000 genomes]
rs61826831	0.85[EUR][1000 genomes]
rs61827930	0.83[AMR][1000 genomes]
rs61827933	0.83[AMR][1000 genomes]
rs61827936	0.84[AMR][1000 genomes]
rs61827938	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61827957	0.87[AMR][1000 genomes]
rs61827959	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61828895	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828898	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828899	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828900	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828901	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425262	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425264	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425267	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6425271	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6425272	0.81[EUR][1000 genomes]
rs6657380	0.81[EUR][1000 genomes]
rs6661182	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6665720	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6665880	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668543	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6676307	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680088	0.80[ASN][1000 genomes]
rs6683276	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6684527	0.83[EUR][1000 genomes]
rs6688176	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6695887	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6698123	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6702454	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6703547	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs677	0.90[AMR][1000 genomes]
rs724416	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7523504	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7530661	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7547880	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549291	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs767053	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9283385	0.81[EUR][1000 genomes]
rs9425779	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9425780	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs961148	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs965498	0.85[EUR][1000 genomes]
rs9728376	0.81[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58092103	SERPINC1	cis	Muscle Skeletal	GTEx
rs58092103	SERPINC1	cis	lung	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	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173905000-173962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:173905200-173954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:173906000-173959000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:173906800-173959000	Strong transcription	Liver	Liver
17	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
19	chr1:173923400-173962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:173923800-173955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:173929000-173962200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:173931200-173962400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:173931200-173962400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:173931200-173965600	Weak transcription	Small Intestine	intestine
25	chr1:173931200-173969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:173933200-173954600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:173938200-173955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:173938800-173954800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:173941000-173965000	Strong transcription	Fetal Thymus	thymus
30	chr1:173941200-173954800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:173941200-173958600	Strong transcription	Adipose Nuclei	Adipose
32	chr1:173942200-173967400	Weak transcription	Fetal Heart	heart
33	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
34	chr1:173945000-173955400	Strong transcription	HSMM	muscle
35	chr1:173945200-173954600	Strong transcription	NHDF-Ad	bronchial
36	chr1:173945400-173958600	Strong transcription	HUVEC	blood vessel
37	chr1:173945600-173954600	Strong transcription	Hela-S3	cervix
38	chr1:173947000-173966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:173949200-173970600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:173949400-173960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:173949600-173965600	Weak transcription	Esophagus	oesophagus
42	chr1:173949600-173970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:173950200-173958000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:173950200-173958400	Weak transcription	Spleen	Spleen
45	chr1:173950200-173961800	Weak transcription	Aorta	Aorta
46	chr1:173950400-173956400	Weak transcription	Fetal Kidney	kidney
47	chr1:173950400-173960200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:173950600-173973400	Weak transcription	Psoas Muscle	Psoas
49	chr1:173951200-173958200	Weak transcription	Lung	lung
50	chr1:173951400-173960000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links