Variant report

Variant	rs7826493
Chromosome Location	chr8:130738972-130738973
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	RAD21	chr8:130738337-130739071	A549	lung:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
2	SMC3	chr8:130738453-130738991	Hela-S3	cervix:	n/a	chr8:130738737-130738751
3	CTCF	chr8:130738431-130739002	MCF-7	breast:	n/a	chr8:130738735-130738753 chr8:130738730-130738751 chr8:130738737-130738750
4	RAD21	chr8:130738379-130739029	MCF-7	breast:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
5	RAD21	chr8:130738303-130739081	A549	lung:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
6	RAD21	chr8:130738456-130739000	ECC-1	luminal epithelium:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
7	CTCF	chr8:130737999-130739223	SK-N-SH	brain:	n/a	chr8:130738735-130738753 chr8:130738730-130738751 chr8:130738737-130738750
8	RAD21	chr8:130738259-130739193	HCT-116	colon:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
9	CTCF	chr8:130738900-130739050	HRE	kidney:	n/a	n/a
10	FOSL2	chr8:130738436-130738972	A549	lung:	n/a	n/a
11	GATA3	chr8:130738792-130738975	SH-SY5Y	brain:	n/a	chr8:130738794-130738815
12	RAD21	chr8:130738414-130739021	MCF-7	breast:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
13	CTCF	chr8:130738476-130739009	MCF-7	breast:	n/a	chr8:130738735-130738753 chr8:130738730-130738751 chr8:130738737-130738750
14	CTCF	chr8:130738940-130739090	HBMEC	blood vessel:	n/a	n/a
15	SP1	chr8:130738372-130738978	A549	lung:	n/a	chr8:130738629-130738643
16	JUN	chr8:130738585-130738989	K562	blood:	n/a	n/a
17	CTCF	chr8:130738302-130739126	HCT-116	colon:	n/a	chr8:130738735-130738753 chr8:130738730-130738751 chr8:130738737-130738750
18	TBL1XR1	chr8:130738597-130739000	K562	blood:	n/a	n/a
19	CTCF	chr8:130738960-130739110	HMF	breast:	n/a	n/a
20	RAD21	chr8:130738370-130739080	IMR90	lung:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
21	CTCF	chr8:130738940-130739090	GM12878	blood:	n/a	n/a
22	SMC3	chr8:130738371-130739345	SK-N-SH	brain:	n/a	chr8:130738737-130738751
23	CTCF	chr8:130738900-130739050	GM12872	blood:	n/a	n/a
24	RAD21	chr8:130738114-130739164	SK-N-SH	brain:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
25	CTCF	chr8:130738054-130739961	A549	lung:	n/a	chr8:130738735-130738753 chr8:130738730-130738751 chr8:130738737-130738750
26	RAD21	chr8:130738280-130739162	HCT-116	colon:	n/a	chr8:130738737-130738751 chr8:130738733-130738752
27	TCF12	chr8:130738258-130739010	A549	lung:	n/a	n/a
28	PBX3	chr8:130738408-130739000	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:128748018..128748536-chr8:130738676..130739207,2	K562	blood:
2	chr8:130738688..130740229-chr8:130741129..130743486,2	K562	blood:
3	chr8:130685068..130688410-chr8:130735715..130739405,3	K562	blood:
4	chr8:128747171..128749323-chr8:130738753..130740305,2	MCF-7	breast:
5	chr8:130694163..130694944-chr8:130737903..130739156,3	MCF-7	breast:
6	chr8:130685068..130686753-chr8:130736730..130739405,2	K562	blood:

Variant related genes	Relation type
ENSG00000224110	TF binding region
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10104593	0.89[ASN][1000 genomes]
rs10109335	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1074286	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808583	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956487	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956490	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956491	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11984666	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1989396	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2062078	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3886937	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3886938	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128895	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4130415	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4144736	0.85[ASN][1000 genomes]
rs4144738	0.87[ASN][1000 genomes]
rs4236748	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4335095	0.89[ASN][1000 genomes]
rs4345520	0.89[ASN][1000 genomes]
rs4360262	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4366050	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4367506	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4425724	0.87[ASN][1000 genomes]
rs4509279	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4559213	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4571702	0.89[ASN][1000 genomes]
rs4584118	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4613961	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4633026	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733724	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733725	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733726	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733727	0.87[ASN][1000 genomes]
rs4733728	0.87[ASN][1000 genomes]
rs4733737	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733738	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60228607	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61199848	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470763	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470764	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470765	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470766	0.83[EUR][1000 genomes]
rs6470768	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470769	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470770	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470771	0.83[EUR][1000 genomes]
rs6470772	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470773	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6470778	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6651255	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983071	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6984575	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6985118	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986256	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994279	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6998296	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6998472	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7004355	0.89[ASN][1000 genomes]
rs7011557	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7012062	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7012249	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7016313	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7017052	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7017235	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7341636	0.87[ASN][1000 genomes]
rs7388479	0.87[ASN][1000 genomes]
rs7814941	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815955	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816131	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816342	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816625	0.88[ASN][1000 genomes]
rs7828785	0.88[ASN][1000 genomes]
rs7833174	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7839339	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7841981	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844275	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7846627	0.87[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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:130735400-130742600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:130737200-130739200	Enhancers	A549	lung
4	chr8:130737200-130740800	Enhancers	K562	blood
5	chr8:130738000-130739200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130738200-130739000	Enhancers	Dnd41	blood
7	chr8:130738200-130739000	Enhancers	HUVEC	blood vessel
8	chr8:130738200-130739400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:130738200-130744200	Weak transcription	Esophagus	oesophagus
10	chr8:130738400-130739000	Enhancers	Fetal Lung	lung
11	chr8:130738400-130739200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:130738400-130739200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:130738400-130739200	Enhancers	Osteobl	bone
14	chr8:130738400-130739400	Enhancers	NHEK	skin
15	chr8:130738600-130739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:130738800-130739400	Enhancers	NHLF	lung

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