Variant report

Variant	rs55955319
Chromosome Location	chr1:179203741-179203742
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	JUND	chr1:179203469-179204104	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:179203465-179204172	SK-N-SH	brain:	n/a	chr1:179203724-179203741 chr1:179204015-179204022
3	JUND	chr1:179203476-179204031	SK-N-SH	brain:	n/a	n/a
4	FOS	chr1:179203677-179204052	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA2	chr1:179203548-179204144	HUVEC	blood vessel:	n/a	chr1:179203724-179203741 chr1:179203761-179203775 chr1:179204015-179204022 chr1:179203732-179203746
6	MAFK	chr1:179203647-179204231	Hela-S3	cervix:	n/a	chr1:179204011-179204022 chr1:179204009-179204023 chr1:179204010-179204026 chr1:179204011-179204022
7	GATA1	chr1:179203499-179204082	K562	blood:	n/a	chr1:179203724-179203741 chr1:179204015-179204022
8	GATA3	chr1:179203434-179204132	A549	lung:	n/a	chr1:179203724-179203741 chr1:179204015-179204022
9	RCOR1	chr1:179203653-179204307	K562	blood:	n/a	n/a
10	TCF12	chr1:179203440-179204123	SK-N-SH	brain:	n/a	n/a
11	FOS	chr1:179203671-179204134	HUVEC	blood vessel:	n/a	n/a
12	RXRA	chr1:179203498-179203974	SK-N-SH	brain:	n/a	n/a
13	EP300	chr1:179203734-179203811	K562	blood:	n/a	n/a
14	EP300	chr1:179203596-179203954	Hela-S3	cervix:	n/a	n/a
15	JUND	chr1:179203608-179204141	K562	blood:	n/a	n/a
16	GATA3	chr1:179203466-179204189	SK-N-SH	brain:	n/a	chr1:179203724-179203741 chr1:179204015-179204022
17	FOSL1	chr1:179203561-179204052	HCT-116	colon:	n/a	n/a
18	FOXA1	chr1:179203490-179203845	HepG2	liver:	n/a	n/a
19	STAT3	chr1:179203609-179204293	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr1:179203571-179203904	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr1:179203505-179204330	Hela-S3	cervix:	n/a	chr1:179203998-179204005
22	PBX3	chr1:179203486-179204082	SK-N-SH	brain:	n/a	n/a
23	FOS	chr1:179203618-179204073	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr1:179203740-179203949	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr1:179203513-179204073	SK-N-SH	brain:	n/a	n/a
26	FOS	chr1:179203655-179203956	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr1:179203492-179204045	A549	lung:	n/a	n/a
28	TCF12	chr1:179203499-179204012	A549	lung:	n/a	n/a
29	FOS	chr1:179203606-179204097	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr1:179203488-179204066	SK-N-SH	brain:	n/a	n/a
31	JUND	chr1:179203616-179204117	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179198432..179201318-chr1:179202068..179205329,4	K562	blood:
2	chr1:179198578..179200857-chr1:179201738..179204176,2	K562	blood:
3	chr1:179202041..179203802-chr1:179206538..179208107,2	K562	blood:

Variant related genes	Relation type
ABL2	TF binding region
ENSG00000143322	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1004959	0.94[ASN][1000 genomes]
rs10157052	0.83[AFR][1000 genomes]
rs10157885	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12080991	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17277358	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17361990	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17362128	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2017688	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274230	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2636281	0.82[AFR][1000 genomes]
rs2793806	0.80[AFR][1000 genomes]
rs2816167	0.85[AFR][1000 genomes]
rs2816210	0.80[AFR][1000 genomes]
rs28459842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914474	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28914485	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753532	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55642919	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55825882	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55827544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920203	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56382583	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58082966	0.87[AFR][1000 genomes]
rs60741626	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60826716	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668200	0.86[EUR][1000 genomes]
rs6669988	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650996	0.87[AFR][1000 genomes]
rs9650997	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9650998	0.86[EUR][1000 genomes]
rs9724754	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9803885	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179199400-179210000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:179199800-179204600	Enhancers	Hela-S3	cervix
3	chr1:179201200-179204400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:179201200-179204400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:179201200-179204600	Enhancers	HMEC	breast
6	chr1:179201200-179204600	Enhancers	NHEK	skin
7	chr1:179202600-179203800	Enhancers	NHLF	lung
8	chr1:179202600-179204400	Enhancers	HUVEC	blood vessel
9	chr1:179203000-179203800	Enhancers	Osteobl	bone
10	chr1:179203000-179204400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:179203000-179204400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:179203000-179204600	Enhancers	NHDF-Ad	bronchial
13	chr1:179203400-179203800	Weak transcription	A549	lung
14	chr1:179203400-179204600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:179203600-179203800	Enhancers	HepG2	liver
16	chr1:179203600-179204000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:179203600-179204400	Enhancers	K562	blood
18	chr1:179203600-179204600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:179203600-179204600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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