Variant report

Variant	rs17628074
Chromosome Location	chr2:177796509-177796510
allele	C/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	BATF	chr2:177796434-177796932	GM12878	blood:	n/a	chr2:177796714-177796725
2	FOXM1	chr2:177796458-177797429	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:177796351-177797053	GM12878	blood:	n/a	n/a
4	CHD2	chr2:177796441-177797400	GM12878	blood:	n/a	n/a
5	RFX5	chr2:177796358-177797054	GM12878	blood:	n/a	n/a
6	FOSL2	chr2:177796445-177796927	A549	lung:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
7	ATF2	chr2:177796384-177797229	GM12878	blood:	n/a	n/a
8	RAD21	chr2:177796503-177796964	GM12878	blood:	n/a	n/a
9	JUND	chr2:177796412-177796999	HCT-116	colon:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727 chr2:177796716-177796727
10	STAT5A	chr2:177796467-177797234	GM12878	blood:	n/a	chr2:177796717-177796726 chr2:177796824-177796835 chr2:177796718-177796727
11	TEAD4	chr2:177796483-177797006	ECC-1	luminal epithelium:	n/a	n/a
12	PAX5	chr2:177796479-177797140	GM12878	blood:	n/a	chr2:177796824-177796833
13	CUX1	chr2:177796246-177797318	GM12878	blood:	n/a	n/a
14	EBF1	chr2:177796428-177797288	GM12878	blood:	n/a	n/a
15	CEBPB	chr2:177796323-177797256	GM12878	blood:	n/a	n/a
16	BATF	chr2:177796465-177797037	GM12878	blood:	n/a	chr2:177796714-177796725
17	BHLHE40	chr2:177796454-177798272	GM12878	blood:	n/a	chr2:177797165-177797174 chr2:177797158-177797179
18	RUNX3	chr2:177796332-177797349	GM12878	blood:	n/a	n/a
19	KAP1	chr2:177796438-177797154	HEK293	kidney:	n/a	chr2:177796719-177796728 chr2:177796716-177796725
20	FOS	chr2:177796491-177796944	HUVEC	blood vessel:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
21	POLR2A	chr2:177794408-177803203	K562	blood:	n/a	n/a
22	NFATC1	chr2:177796323-177797188	GM12878	blood:	n/a	n/a
23	MEF2A	chr2:177796358-177797215	GM12878	blood:	n/a	n/a
24	SP1	chr2:177796438-177797145	GM12878	blood:	n/a	n/a
25	TCF12	chr2:177796418-177796916	MCF-7	breast:	n/a	n/a
26	IRF4	chr2:177796506-177797011	GM12878	blood:	n/a	chr2:177796818-177796839 chr2:177796822-177796836
27	FOSL1	chr2:177796447-177797046	HCT-116	colon:	n/a	chr2:177797009-177797021 chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727 chr2:177796716-177796727
28	RCOR1	chr2:177796399-177797267	GM12878	blood:	n/a	n/a
29	FOXM1	chr2:177796464-177797379	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr2:177796426-177797133	MCF-7	breast:	n/a	n/a
31	EP300	chr2:177796439-177797311	GM12878	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
32	CHD1	chr2:177796373-177797776	GM12878	blood:	n/a	n/a
33	MXI1	chr2:177796165-177797571	GM12878	blood:	n/a	n/a
34	JUN	chr2:177795460-177797403	K562	blood:	n/a	chr2:177797009-177797021 chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
35	SP1	chr2:177796496-177797088	GM12878	blood:	n/a	n/a
36	NFYB	chr2:177796073-177797190	GM12878	blood:	n/a	n/a
37	EP300	chr2:177796017-177797352	K562	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
38	EP300	chr2:177796276-177797414	GM12878	blood:	n/a	chr2:177796649-177796663 chr2:177796650-177796664 chr2:177796718-177796727 chr2:177796655-177796669 chr2:177796717-177796726 chr2:177796819-177796833 chr2:177796653-177796667
39	JUND	chr2:177796399-177796980	MCF-7	breast:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727 chr2:177796716-177796727
40	FOS	chr2:177796472-177796918	MCF10A-Er-Src	breast:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
41	NFIC	chr2:177796317-177797391	GM12878	blood:	n/a	n/a
42	MYC	chr2:177796506-177797343	K562	blood:	n/a	chr2:177796718-177796727
43	GATA3	chr2:177796397-177797070	MCF-7	breast:	n/a	n/a
44	BCL11A	chr2:177796462-177797260	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
45	CTCF	chr2:177796508-177796800	K562	blood:	n/a	chr2:177796698-177796714
46	FOSL2	chr2:177796463-177796858	SK-N-SH	brain:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
47	FOSL2	chr2:177796481-177796898	MCF-7	breast:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727
48	BCLAF1	chr2:177796456-177797126	GM12878	blood:	n/a	chr2:177796718-177796727 chr2:177796824-177796833 chr2:177796717-177796726
49	IRF4	chr2:177796499-177797100	GM12878	blood:	n/a	chr2:177796818-177796839 chr2:177796822-177796836
50	JUND	chr2:177796416-177796986	HCT-116	colon:	n/a	chr2:177796718-177796726 chr2:177796717-177796726 chr2:177796718-177796725 chr2:177796718-177796727 chr2:177796716-177796727

Variant related genes	Relation type
RNU6-187P	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10186950	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930766	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930772	1.00[ASN][1000 genomes]
rs12469347	1.00[JPT][hapmap]
rs12612709	1.00[ASN][1000 genomes]
rs12616782	1.00[JPT][hapmap]
rs13005005	1.00[JPT][hapmap]
rs13421731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13422461	1.00[ASN][1000 genomes]
rs1355845	1.00[JPT][hapmap]
rs1355854	0.90[ASN][1000 genomes]
rs1398967	0.90[ASN][1000 genomes]
rs1398969	0.90[ASN][1000 genomes]
rs1398977	0.90[ASN][1000 genomes]
rs1405614	0.90[ASN][1000 genomes]
rs1513870	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1527265	1.00[ASN][1000 genomes]
rs1527266	1.00[ASN][1000 genomes]
rs16864736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17679370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866134	1.00[JPT][hapmap]
rs2196658	0.82[ASN][1000 genomes]
rs2696966	1.00[ASN][1000 genomes]
rs4894207	0.90[ASN][1000 genomes]
rs61177850	0.90[ASN][1000 genomes]
rs6433618	0.90[ASN][1000 genomes]
rs6433624	1.00[ASN][1000 genomes]
rs6707899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710025	1.00[ASN][1000 genomes]
rs6760271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7562938	0.90[ASN][1000 genomes]
rs7588841	1.00[JPT][hapmap]
rs840698	1.00[JPT][hapmap]
rs840699	1.00[JPT][hapmap]

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	nsv875448	chr2:177760005-177819108	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv875449	chr2:177775612-177835010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875450	chr2:177785155-177819108	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177792800-177796600	Weak transcription	Fetal Heart	heart
2	chr2:177795200-177797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:177796000-177796600	Enhancers	K562	blood
4	chr2:177796000-177797000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:177796000-177797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:177796200-177797400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:177796200-177798200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:177796400-177796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:177796400-177797000	Active TSS	GM12878-XiMat	blood
10	chr2:177796400-177797000	Enhancers	Hela-S3	cervix

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