Variant report

Variant	rs73869048
Chromosome Location	chr3:143570199-143570200
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	ATF2	chr3:143569668-143570218	GM12878	blood:	n/a	n/a
2	RELA	chr3:143569703-143570265	GM12878	blood:	n/a	n/a
3	IKZF1	chr3:143569815-143570233	GM12878	blood:	n/a	n/a
4	NFIC	chr3:143569662-143570236	GM12878	blood:	n/a	n/a
5	RELA	chr3:143569727-143570483	GM18951	blood:	n/a	n/a
6	RELA	chr3:143569398-143570614	GM12891	blood:	n/a	n/a
7	STAT3	chr3:143569836-143570203	GM12878	blood:	n/a	n/a
8	FOS	chr3:143569665-143570437	MCF10A-Er-Src	breast:	n/a	chr3:143570263-143570275
9	RELA	chr3:143569729-143570656	GM19099	blood:	n/a	n/a
10	RELA	chr3:143569731-143570310	GM18505	blood:	n/a	n/a

Variant related genes	Relation type
SLC9A9	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1394398	1.00[ASN][1000 genomes]
rs1504603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1504604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1995529	1.00[ASN][1000 genomes]
rs1995530	1.00[ASN][1000 genomes]
rs2011297	0.93[ASN][1000 genomes]
rs2011303	1.00[ASN][1000 genomes]
rs2361205	0.85[ASN][1000 genomes]
rs2885195	1.00[ASN][1000 genomes]
rs4499594	1.00[ASN][1000 genomes]
rs56220620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56407400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57718888	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58887384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58921154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59306133	1.00[ASN][1000 genomes]
rs60249173	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60523819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60550983	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6768702	0.93[ASN][1000 genomes]
rs6780027	0.93[ASN][1000 genomes]
rs6794907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73869037	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73869039	0.85[ASN][1000 genomes]
rs73869041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73869042	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73869049	1.00[ASN][1000 genomes]
rs73869050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73871822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73871823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73871826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73871827	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73871828	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7434217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7613146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7637640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9824974	1.00[ASN][1000 genomes]
rs9836851	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143567400-143570600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:143567400-143571000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:143567800-143570200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:143567800-143570400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:143567800-143571000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:143568400-143570400	Flanking Active TSS	GM12878-XiMat	blood
7	chr3:143568400-143570600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:143568600-143570400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:143568600-143571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:143568800-143570200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:143568800-143570600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:143569000-143570800	Flanking Active TSS	NHEK	skin
13	chr3:143569200-143570200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:143569200-143570400	Enhancers	NHDF-Ad	bronchial
15	chr3:143569200-143573000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:143569200-143573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:143569400-143570400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:143569400-143571000	Enhancers	HMEC	breast
19	chr3:143569400-143573200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:143569600-143570400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:143569600-143570400	Enhancers	NHLF	lung
22	chr3:143569600-143570600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:143569600-143572600	Weak transcription	Primary T cells from cord blood	blood
24	chr3:143569600-143572800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:143569600-143573200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:143569600-143574000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:143569600-143574000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:143569600-143574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:143569800-143570600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:143569800-143570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:143569800-143572400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:143570000-143570600	Enhancers	Fetal Thymus	thymus
33	chr3:143570000-143572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:143570000-143573000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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