Variant report

Variant	rs9882253
Chromosome Location	chr3:139058803-139058804
allele	A/C
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	MYC	chr3:139057671-139059122	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
2	UBTF	chr3:139058085-139058826	K562	blood:	n/a	n/a
3	IRF1	chr3:139057954-139059102	K562	blood:	n/a	n/a
4	JUN	chr3:139057867-139058823	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
5	TEAD4	chr3:139058011-139058931	K562	blood:	n/a	n/a
6	RCOR1	chr3:139057991-139058820	K562	blood:	n/a	n/a
7	POLR2A	chr3:139057966-139058839	K562	blood:	n/a	n/a
8	RCOR1	chr3:139057578-139058956	K562	blood:	n/a	n/a
9	BHLHE40	chr3:139057153-139058842	K562	blood:	n/a	n/a
10	MYC	chr3:139057649-139059125	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
11	JUN	chr3:139057700-139059190	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
12	JUND	chr3:139057912-139058952	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
13	MYC	chr3:139057981-139059068	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
14	MAZ	chr3:139058016-139058896	K562	blood:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
15	MAX	chr3:139057975-139059126	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
16	HMGN3	chr3:139058007-139058828	K562	blood:	n/a	chr3:139058379-139058388

No.	Distal block	Cell Line	Cell type
1	chr3:138552766..138554683-chr3:139056672..139058862,2	K562	blood:
2	chr3:139056776..139060139-chr3:139061130..139064299,6	K562	blood:
3	chr3:139058653..139060158-chr3:139060593..139062603,2	MCF-7	breast:
4	chr3:139046461..139048787-chr3:139056957..139058941,2	K562	blood:
5	chr3:139045986..139048123-chr3:139057280..139059882,2	K562	blood:

Variant related genes	Relation type
MRPS22	TF binding region
ENSG00000051382	Chromatin interaction
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1007079	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11919679	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1602627	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188419	0.82[EUR][1000 genomes]
rs192688	0.82[EUR][1000 genomes]
rs211581	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2233817	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278577	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs295475	0.81[EUR][1000 genomes]
rs295476	0.82[EUR][1000 genomes]
rs295477	0.82[EUR][1000 genomes]
rs3772874	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3772875	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821546	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60082560	0.82[EUR][1000 genomes]
rs60961550	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6439863	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6776315	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986799	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7373142	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7373302	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648636	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9819224	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858740	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859683	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv4034	chr3:139034976-139080133	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139048200-139062400	Weak transcription	Right Atrium	heart
2	chr3:139056800-139060400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:139057000-139060000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:139057800-139059200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:139057800-139060000	Flanking Active TSS	K562	blood
6	chr3:139058000-139059000	Enhancers	HSMM	muscle
7	chr3:139058600-139059000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr3:139058600-139059000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:139058600-139062400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:139058600-139062600	Weak transcription	Hela-S3	cervix
11	chr3:139058800-139062400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:139058800-139062400	Weak transcription	HMEC	breast
13	chr3:139058800-139062600	Weak transcription	Muscle Satellite Cultured Cells	--

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