Variant report

Variant	rs68143871
Chromosome Location	chr1:172855576-172855577
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	chr1:172854852-172855840	HCT-116	colon:	n/a	n/a
2	SIN3AK20	chr1:172854495-172855714	HCT-116	colon:	n/a	n/a
3	POLR2A	chr1:172854955-172855634	HCT-116	colon:	n/a	n/a
4	EP300	chr1:172854373-172855609	SK-N-SH	brain:	n/a	chr1:172854601-172854615
5	JUND	chr1:172854393-172855807	HCT-116	colon:	n/a	n/a
6	SRF	chr1:172854373-172855718	HCT-116	colon:	n/a	n/a
7	SP1	chr1:172854368-172855685	HCT-116	colon:	n/a	n/a
8	CBX3	chr1:172854510-172855672	HCT-116	colon:	n/a	chr1:172854921-172854932
9	SP1	chr1:172854305-172855828	HCT-116	colon:	n/a	n/a
10	FOSL1	chr1:172854491-172855694	HCT-116	colon:	n/a	n/a
11	FOSL1	chr1:172854323-172855731	HCT-116	colon:	n/a	n/a
12	CBX3	chr1:172854415-172855752	HCT-116	colon:	n/a	chr1:172854921-172854932
13	MAX	chr1:172854385-172855741	HCT-116	colon:	n/a	n/a
14	CEBPB	chr1:172854401-172855812	HCT-116	colon:	n/a	n/a
15	RAD21	chr1:172854335-172855667	HCT-116	colon:	n/a	n/a
16	JUND	chr1:172854404-172855700	HCT-116	colon:	n/a	n/a
17	GATA3	chr1:172854255-172855596	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr1:172854331-172855604	SK-N-SH	brain:	n/a	n/a
19	TCF7L2	chr1:172854667-172855615	HCT-116	colon:	n/a	n/a
20	CEBPB	chr1:172854450-172855724	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
AIMP1P2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912488	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912491	0.83[EUR][1000 genomes]
rs12021711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12025176	0.82[EUR][1000 genomes]
rs12037853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12047983	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136659	0.84[EUR][1000 genomes]
rs12403628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411259	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12728265	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739009	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747422	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12748081	0.91[EUR][1000 genomes]
rs2157453	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2157454	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2213742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2213745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35715673	0.91[EUR][1000 genomes]
rs4145468	0.83[EUR][1000 genomes]
rs4916198	0.87[EUR][1000 genomes]
rs4916283	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916285	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55724017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6425143	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425145	0.94[EUR][1000 genomes]
rs6425146	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6661686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6672776	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6699678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517810	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7527462	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9286879	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172850600-172856800	Enhancers	HUVEC	blood vessel
2	chr1:172852000-172855600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:172852000-172855600	Enhancers	HSMM	muscle
4	chr1:172852200-172855600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:172852400-172855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:172852600-172862400	Weak transcription	Pancreas	Pancrea
7	chr1:172852800-172857000	Enhancers	Stomach Mucosa	stomach
8	chr1:172853200-172855600	Enhancers	Osteobl	bone
9	chr1:172854200-172855600	Enhancers	Hela-S3	cervix
10	chr1:172854200-172855600	Enhancers	NHDF-Ad	bronchial
11	chr1:172854400-172855600	Enhancers	NHEK	skin
12	chr1:172854600-172855600	Enhancers	HMEC	breast
13	chr1:172854600-172857000	Enhancers	A549	lung
14	chr1:172854800-172855600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:172855000-172856000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:172855200-172855800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:172855400-172856000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:172855400-172856800	Weak transcription	Fetal Intestine Small	intestine
19	chr1:172855400-172857600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:172855400-172862400	Weak transcription	NH-A	brain

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