Variant report

Variant	rs1926201
Chromosome Location	chr10:90746360-90746361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr10:90746297-90746606	GM12878	blood:	n/a	n/a
2	RUNX3	chr10:90746210-90747652	GM12878	blood:	n/a	n/a
3	RUNX3	chr10:90746237-90746666	GM12878	blood:	n/a	n/a
4	SPI1	chr10:90746207-90746710	HL-60	blood:	n/a	n/a
5	EGR1	chr10:90746254-90746573	GM12878	blood:	n/a	n/a
6	RAD21	chr10:90745871-90747254	SK-N-SH	brain:	n/a	chr10:90746901-90746910 chr10:90746895-90746914
7	EGR1	chr10:90746283-90746540	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:90746213-90746749	SK-N-MC	brain:	n/a	n/a
9	SPI1	chr10:90746260-90746561	HL-60	blood:	n/a	n/a
10	SPI1	chr10:90746305-90746640	GM12891	blood:	n/a	n/a
11	NFIC	chr10:90746221-90746732	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:90746273-90746445	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
2	chr10:90732274..90733956-chr10:90744737..90747226,2	K562	blood:

Variant related genes	Relation type
FAS	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10788624	0.81[ASN][1000 genomes]
rs10887876	0.81[ASN][1000 genomes]
rs10887877	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11202918	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12359362	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12775501	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1324551	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800682	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926195	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926196	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031610	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3740286	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3758485	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3824729	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824730	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3903454	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4934433	0.86[ASN][1000 genomes]
rs4934434	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586160	0.82[ASN][1000 genomes]
rs6586161	0.87[ASN][1000 genomes]
rs6586163	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586164	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586165	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6586166	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6586167	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7069061	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7072828	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7082101	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7082720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097572	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7897395	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914490	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978522	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1926201	FAS	cis	Adipose Subcutaneous	GTEx
rs1926201	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs1926201	ACTA2	cis	multi-tissue	Pritchard
rs1926201	ACTA2-AS1	cis	Whole Blood	GTEx
rs1926201	FAS	cis	Nerve Tibial	GTEx
rs1926201	FAS	cis	Muscle Skeletal	GTEx
rs1926201	FAS	cis	Esophagus Muscularis	GTEx
rs1926201	ACTA2	cis	Whole Blood	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90735600-90746400	Weak transcription	HepG2	liver
3	chr10:90735600-90748600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:90735800-90746400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
8	chr10:90739400-90749400	Weak transcription	NHEK	skin
9	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
13	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:90739800-90749200	Weak transcription	HMEC	breast
15	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
16	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:90740800-90749200	Weak transcription	NH-A	brain
18	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
22	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
24	chr10:90741600-90749400	Weak transcription	HSMM	muscle
25	chr10:90742600-90746400	Weak transcription	Fetal Kidney	kidney
26	chr10:90742800-90747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:90743000-90746600	Weak transcription	Liver	Liver
29	chr10:90743200-90746400	Weak transcription	NHDF-Ad	bronchial
30	chr10:90743200-90746600	Enhancers	Stomach Smooth Muscle	stomach
31	chr10:90743600-90746600	Enhancers	Ovary	ovary
32	chr10:90743800-90746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
34	chr10:90744200-90746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:90744200-90746400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:90744200-90749200	Weak transcription	Fetal Stomach	stomach
37	chr10:90744200-90749200	Weak transcription	Right Atrium	heart
38	chr10:90744200-90749600	Weak transcription	Fetal Intestine Small	intestine
39	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
40	chr10:90744600-90748400	Weak transcription	Osteobl	bone
41	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
42	chr10:90744800-90746400	Weak transcription	GM12878-XiMat	blood
43	chr10:90745000-90748200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:90745000-90749600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:90745200-90746800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:90745200-90749200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:90745400-90747400	Enhancers	Rectal Smooth Muscle	rectum
48	chr10:90745600-90746400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:90745600-90747200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr10:90745600-90749200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links