Variant report

Variant	rs299551
Chromosome Location	chr2:123831205-123831206
allele	C/T
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	CEBPB	chr2:123830989-123831302	K562	blood:	n/a	chr2:123831126-123831137
2	POLR2A	chr2:123830764-123831258	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr2:123831015-123831299	HepG2	liver:	n/a	chr2:123831126-123831137
4	FOS	chr2:123830974-123831341	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr2:123831046-123831246	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr2:123831159-123831347	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:123830966-123831292	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:123831041-123831270	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:123830986-123831329	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr2:123831036-123831288	U87	brain:	n/a	n/a
11	E2F4	chr2:123830983-123831225	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000232740	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10178398	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154994	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154996	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154997	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1160010	0.96[EUR][1000 genomes]
rs1160011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1160012	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12466984	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476143	0.92[ASN][1000 genomes]
rs12478792	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12478793	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12996298	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005367	0.88[EUR][1000 genomes]
rs13031371	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];0.99[ASN][1000 genomes]
rs1395931	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1507667	0.91[EUR][1000 genomes]
rs1606802	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17381599	0.92[ASN][1000 genomes]
rs17466105	0.92[ASN][1000 genomes]
rs188493	0.95[EUR][1000 genomes]
rs2063800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138170	0.86[EUR][1000 genomes]
rs2244129	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2248895	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2419071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2458994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2661001	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2661032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2661035	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661036	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2661041	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661043	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661044	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2661045	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2673182	0.96[EUR][1000 genomes]
rs2673185	0.84[CEU][hapmap];0.97[EUR][1000 genomes]
rs2673187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2673188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2673189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2673194	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2673195	0.88[AFR][1000 genomes]
rs2673196	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2900804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299536	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs299539	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs299540	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs299542	0.96[EUR][1000 genomes]
rs299544	0.92[CEU][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs299545	0.96[EUR][1000 genomes]
rs299546	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];0.99[ASN][1000 genomes]
rs299548	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];0.99[ASN][1000 genomes]
rs299549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs299550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs299553	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs299560	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs299561	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299562	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36131743	0.91[EUR][1000 genomes]
rs4848824	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6726973	0.97[ASN][1000 genomes]
rs6731851	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6734712	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747893	0.97[EUR][1000 genomes]
rs6754344	0.92[ASN][1000 genomes]
rs6755603	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6755929	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761730	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608420	0.97[ASN][1000 genomes]
rs7608426	0.97[ASN][1000 genomes]
rs7608772	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7609057	0.92[ASN][1000 genomes]
rs957759	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9636359	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492280	chr2:123447662-123973577	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2760647	chr2:123678437-124619697	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1010200	chr2:123816326-123887210	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961349	chr2:123827896-123840926	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123829800-123831800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:123831000-123832800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:123831200-123832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:123831200-123832600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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