Variant report

Variant	rs56042812
Chromosome Location	chr4:127482061-127482062
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	MAFF	chr4:127482012-127482259	K562	blood:	n/a	n/a
2	FOSL2	chr4:127481931-127482424	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr4:127481865-127482424	SK-N-SH	brain:	n/a	n/a
4	FOS	chr4:127481986-127482280	MCF10A-Er-Src	breast:	n/a	chr4:127482168-127482179
5	TCF12	chr4:127481812-127482414	SK-N-SH	brain:	n/a	n/a
6	JUND	chr4:127481848-127482404	SK-N-SH	brain:	n/a	n/a
7	EP300	chr4:127481799-127482432	SK-N-SH	brain:	n/a	n/a
8	FOS	chr4:127481992-127482325	MCF10A-Er-Src	breast:	n/a	chr4:127482168-127482179
9	GATA3	chr4:127481860-127482399	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr4:127481965-127482280	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr4:127481923-127482438	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr4:127481965-127482400	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr4:127481868-127482298	K562	blood:	n/a	n/a
14	FOS	chr4:127481992-127482270	MCF10A-Er-Src	breast:	n/a	chr4:127482168-127482179
15	TCF12	chr4:127481893-127482419	SK-N-SH	brain:	n/a	n/a
16	FOS	chr4:127481989-127482296	HUVEC	blood vessel:	n/a	chr4:127482168-127482179
17	FOS	chr4:127482029-127482320	MCF10A-Er-Src	breast:	n/a	chr4:127482168-127482179
18	EP300	chr4:127481776-127482423	SK-N-SH	brain:	n/a	n/a
19	EP300	chr4:127481998-127482306	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
RBM48P1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12233787	0.83[EUR][1000 genomes]
rs12233912	0.84[EUR][1000 genomes]
rs12500193	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12504225	0.84[EUR][1000 genomes]
rs12508410	0.84[EUR][1000 genomes]
rs12510569	0.85[EUR][1000 genomes]
rs17197887	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17257398	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1973347	0.83[EUR][1000 genomes]
rs2201054	0.91[EUR][1000 genomes]
rs55667586	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55940120	0.91[EUR][1000 genomes]
rs56036330	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56118011	0.86[EUR][1000 genomes]
rs56154643	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56378408	0.91[EUR][1000 genomes]
rs57096105	0.84[EUR][1000 genomes]
rs58505849	0.91[EUR][1000 genomes]
rs72672012	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672013	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72672015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72672017	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72672021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72672022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72672023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72672029	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72672037	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72672041	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72672046	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72672049	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72672058	0.91[EUR][1000 genomes]
rs72672061	0.84[EUR][1000 genomes]
rs72672063	0.84[EUR][1000 genomes]
rs72672064	0.84[EUR][1000 genomes]
rs7438059	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669805	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7684632	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127474800-127493400	Weak transcription	K562	blood

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