Variant report

Variant	rs10251628
Chromosome Location	chr7:140628763-140628764
allele	A/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	chr7:140628750-140629082	HepG2	liver:	n/a	chr7:140628901-140628915 chr7:140628902-140628920
2	MAFF	chr7:140628659-140629049	K562	blood:	n/a	chr7:140628901-140628915 chr7:140628902-140628920
3	MAFK	chr7:140628756-140629065	IMR90	lung:	n/a	chr7:140628901-140628915 chr7:140628898-140628918 chr7:140628905-140628914 chr7:140628900-140628916 chr7:140628903-140628918
4	GATA3	chr7:140628361-140628903	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr7:140628736-140629059	HepG2	liver:	n/a	chr7:140628901-140628915 chr7:140628898-140628918 chr7:140628905-140628914 chr7:140628900-140628916 chr7:140628903-140628918
6	STAT3	chr7:140628402-140628835	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA2	chr7:140628362-140628938	SH-SY5Y	brain:	n/a	n/a
8	MAFK	chr7:140628743-140629085	HepG2	liver:	n/a	chr7:140628901-140628915 chr7:140628898-140628918 chr7:140628905-140628914 chr7:140628900-140628916 chr7:140628903-140628918

No.	Distal block	Cell Line	Cell type
1	chr7:140623737..140625626-chr7:140627755..140630191,2	MCF-7	breast:
2	chr7:140624423..140627131-chr7:140627332..140629755,3	MCF-7	breast:
3	chr7:140627633..140629820-chr7:140638896..140641697,2	K562	blood:

Variant related genes	Relation type
BRAF	TF binding region
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10242534	0.85[AMR][1000 genomes]
rs10247116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10269699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267600	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267601	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267606	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1267609	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267611	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267613	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1267614	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1267617	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1267619	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267620	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267633	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1267636	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1267638	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1267639	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1267640	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1267642	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1267644	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1267649	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1270193	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1639675	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1639678	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1639679	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17161737	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161750	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161767	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1733827	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1733832	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2245716	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2365097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2535947	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2535951	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28577882	0.85[AMR][1000 genomes]
rs28579189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464036	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6464121	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464123	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948377	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6967652	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970121	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975596	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73489562	0.85[AMR][1000 genomes]
rs73491871	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73497923	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73497924	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73497985	0.86[EUR][1000 genomes]
rs73502717	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502740	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502747	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502785	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73502799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10251628	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140627200-140628800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:140628000-140628800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:140628000-140628800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:140628200-140628800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:140628400-140628800	Weak transcription	Aorta	Aorta

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