Variant report

Variant	rs634963
Chromosome Location	chr10:44760033-44760034
allele	A/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	SMC3	chr10:44759951-44760156	GM12878	blood:	n/a	n/a
2	BHLHE40	chr10:44759795-44760087	GM12878	blood:	n/a	n/a
3	BATF	chr10:44759698-44760206	GM12878	blood:	n/a	n/a
4	NFIC	chr10:44759601-44760242	GM12878	blood:	n/a	chr10:44759992-44760009
5	IRF4	chr10:44759778-44760282	GM12878	blood:	n/a	n/a
6	BCLAF1	chr10:44759753-44760194	GM12878	blood:	n/a	chr10:44759875-44759884
7	TAF1	chr10:44759907-44760172	GM12878	blood:	n/a	n/a
8	SPI1	chr10:44759741-44760035	GM12891	blood:	n/a	n/a
9	EBF1	chr10:44759754-44760162	GM12878	blood:	n/a	n/a
10	EP300	chr10:44759796-44760055	GM12878	blood:	n/a	chr10:44759976-44759990 chr10:44759811-44759825
11	IKZF1	chr10:44759812-44760201	GM12878	blood:	n/a	n/a
12	ATF2	chr10:44759671-44760180	GM12878	blood:	n/a	n/a
13	RUNX3	chr10:44759615-44760249	GM12878	blood:	n/a	n/a
14	BCLAF1	chr10:44759802-44760163	GM12878	blood:	n/a	chr10:44759875-44759884
15	MEF2A	chr10:44759775-44760119	GM12878	blood:	n/a	n/a
16	IRF4	chr10:44759703-44760173	GM12878	blood:	n/a	n/a
17	MXI1	chr10:44759892-44760089	GM12878	blood:	n/a	n/a
18	SPI1	chr10:44759488-44760133	GM12878	blood:	n/a	n/a
19	EP300	chr10:44759782-44760118	GM12878	blood:	n/a	chr10:44759976-44759990 chr10:44759811-44759825
20	RUNX3	chr10:44759650-44760196	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44753557..44756544-chr10:44758616..44760217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237590	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1632484	0.92[EUR][1000 genomes]
rs1657345	0.86[EUR][1000 genomes]
rs1746047	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1746048	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1746049	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1746050	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1746052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576354	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2576355	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760670	0.93[ASN][1000 genomes]
rs2781543	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs473501	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474281	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs475926	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs479596	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs487465	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492152	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs494207	0.93[ASN][1000 genomes]
rs498810	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs504799	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510785	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513391	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs518594	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs522293	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs534079	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs535176	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs535949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541483	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546659	0.93[ASN][1000 genomes]
rs554565	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559469	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559580	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs573141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs579058	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs583489	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs587375	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs604674	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605414	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs605445	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605956	0.84[AFR][1000 genomes]
rs607363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607592	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs607609	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607760	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617035	0.93[ASN][1000 genomes]
rs617542	0.93[ASN][1000 genomes]
rs620356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622472	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs622956	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs635612	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs646890	0.93[ASN][1000 genomes]
rs649192	0.93[ASN][1000 genomes]
rs665855	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670056	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683297	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684196	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684521	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684666	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082209	0.95[JPT][hapmap]
rs800330	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs915083	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3495951	chr10:44757085-44761391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3496062	chr10:44757120-44761379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3495840	chr10:44757152-44761335	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3496173	chr10:44757152-44761335	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44756000-44761000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:44756200-44760800	Enhancers	Rectal Smooth Muscle	rectum
3	chr10:44756400-44760200	Enhancers	Colon Smooth Muscle	Colon
4	chr10:44756600-44760200	Enhancers	Adipose Nuclei	Adipose
5	chr10:44757200-44760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:44757400-44760400	Enhancers	Fetal Stomach	stomach
7	chr10:44757800-44760200	Enhancers	Osteobl	bone
8	chr10:44758400-44762200	Weak transcription	Right Ventricle	heart
9	chr10:44758600-44760200	Enhancers	Fetal Muscle Leg	muscle
10	chr10:44758800-44760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:44758800-44760200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:44759000-44760200	Enhancers	Fetal Lung	lung
13	chr10:44759600-44760200	Enhancers	Left Ventricle	heart
14	chr10:44760000-44760200	Enhancers	Ovary	ovary
15	chr10:44760000-44760200	Flanking Active TSS	GM12878-XiMat	blood
16	chr10:44760000-44760200	Flanking Active TSS	NHDF-Ad	bronchial

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