Variant report

Variant	rs2880033
Chromosome Location	chr8:96109250-96109251
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	CEBPB	chr8:96108981-96109326	HepG2	liver:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
2	CEBPB	chr8:96109057-96109338	K562	blood:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
3	SIN3AK20	chr8:96108153-96109387	MCF-7	breast:	n/a	n/a
4	CEBPB	chr8:96108974-96109335	K562	blood:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
5	GATA3	chr8:96108080-96109411	MCF-7	breast:	n/a	chr8:96109099-96109109
6	CEBPB	chr8:96109039-96109286	H1-hESC	embryonic stem cell:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
7	CEBPB	chr8:96108317-96109492	MCF-7	breast:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
8	CEBPB	chr8:96108993-96109321	A549	lung:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
9	CEBPB	chr8:96108755-96109456	MCF-7	breast:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
10	CEBPB	chr8:96109021-96109315	IMR90	lung:	n/a	chr8:96109161-96109172 chr8:96109160-96109171 chr8:96109162-96109171 chr8:96109160-96109173
11	EP300	chr8:96108300-96109280	T-47D	breast:	n/a	chr8:96109158-96109172
12	HDAC2	chr8:96108345-96109276	MCF-7	breast:	n/a	n/a
13	REST	chr8:96108345-96109253	MCF-7	breast:	n/a	n/a
14	GATA3	chr8:96108284-96109304	MCF-7	breast:	n/a	chr8:96109099-96109109
15	GATA3	chr8:96108418-96109292	MCF-7	breast:	n/a	chr8:96109099-96109109

No.	Distal block	Cell Line	Cell type
1	chr8:96073817..96076023-chr8:96107819..96110019,2	MCF-7	breast:
2	chr8:95959920..95961566-chr8:96108874..96111712,2	MCF-7	breast:
3	chr8:96107905..96110477-chr8:96127013..96129331,2	K562	blood:
4	chr8:96036860..96039472-chr8:96108627..96112245,4	MCF-7	breast:
5	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
6	chr8:95908200..95910154-chr8:96107875..96110236,2	MCF-7	breast:
7	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
8	chr8:96104764..96107063-chr8:96108642..96110810,3	K562	blood:
9	chr8:96104764..96108289-chr8:96108650..96112287,3	K562	blood:
10	chr8:96107931..96110001-chr8:96127728..96130296,2	MCF-7	breast:
11	chr8:96105550..96111124-chr8:96111232..96115383,7	K562	blood:
12	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
13	chr8:96102212..96104143-chr8:96108955..96110574,2	K562	blood:
14	chr8:96108743..96110965-chr8:97274009..97275647,2	MCF-7	breast:
15	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

Variant related genes	Relation type
NDUFAF6	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156471	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1000285	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1000286	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10091897	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10093559	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096848	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774506	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776488	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11777952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778009	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781134	1.00[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782021	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782155	1.00[CHB][hapmap]
rs12543421	0.82[ASN][1000 genomes]
rs12548426	0.82[ASN][1000 genomes]
rs13248868	0.82[ASN][1000 genomes]
rs13273307	0.82[ASN][1000 genomes]
rs16917322	0.80[YRI][hapmap]
rs16917325	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341400	0.82[ASN][1000 genomes]
rs34681252	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34901613	0.82[ASN][1000 genomes]
rs4236831	0.83[ASN][1000 genomes]
rs4321970	0.83[ASN][1000 genomes]
rs4323439	0.83[ASN][1000 genomes]
rs4329243	0.83[ASN][1000 genomes]
rs4734299	0.85[ASN][1000 genomes]
rs6987762	0.83[ASN][1000 genomes]
rs6992774	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008347	0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7010205	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73262476	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96100400-96113600	Weak transcription	Lung	lung
3	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:96102800-96112000	Weak transcription	A549	lung
7	chr8:96103000-96112000	Weak transcription	Osteobl	bone
8	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:96103600-96110000	Weak transcription	Fetal Thymus	thymus
10	chr8:96104600-96109400	Enhancers	Placenta	Placenta
11	chr8:96106000-96111400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:96106200-96109400	Enhancers	K562	blood
13	chr8:96106200-96111800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:96106200-96112200	Enhancers	GM12878-XiMat	blood
15	chr8:96106600-96112000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:96106800-96110800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:96107200-96112000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:96107400-96110000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:96107400-96112000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:96107800-96109400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:96107800-96113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:96108000-96111000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:96108200-96113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:96108600-96111400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:96108600-96111600	Weak transcription	NH-A	brain
26	chr8:96108800-96110200	Weak transcription	HepG2	liver
27	chr8:96108800-96111600	Weak transcription	HMEC	breast
28	chr8:96108800-96111600	Weak transcription	NHEK	skin
29	chr8:96109000-96111400	Weak transcription	Hela-S3	cervix
30	chr8:96109200-96109400	Enhancers	Thymus	Thymus
31	chr8:96109200-96112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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