Variant report

Variant	rs1949173
Chromosome Location	chr6:127843064-127843065
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	GATA3	chr6:127842916-127843116	SH-SY5Y	brain:	n/a	n/a
2	E2F4	chr6:127843032-127843143	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127838875..127840763-chr6:127842438..127844630,2	K562	blood:

Variant related genes	Relation type
ENSG00000255330	TF binding region
SOGA3	TF binding region
ENSG00000184530	Chromatin interaction
ENSG00000255330	Chromatin interaction
ENSG00000214338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1080436	1.00[CHD][hapmap]
rs11154413	1.00[CHD][hapmap]
rs12201026	1.00[CHD][hapmap]
rs1374983	1.00[CHD][hapmap]
rs1448055	0.81[CEU][hapmap]
rs1512455	0.88[EUR][1000 genomes]
rs1512456	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1512461	0.85[EUR][1000 genomes]
rs1512462	0.87[EUR][1000 genomes]
rs1512463	0.87[EUR][1000 genomes]
rs1533186	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1588648	0.87[EUR][1000 genomes]
rs1606331	0.88[EUR][1000 genomes]
rs1606333	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs17205908	1.00[CHD][hapmap]
rs1828612	0.87[EUR][1000 genomes]
rs1913079	0.86[EUR][1000 genomes]
rs1913080	0.87[EUR][1000 genomes]
rs1980060	0.88[EUR][1000 genomes]
rs2221878	1.00[CHD][hapmap]
rs4897215	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs490008	1.00[CHD][hapmap]
rs500192	1.00[CHD][hapmap]
rs579177	1.00[CHD][hapmap]
rs6569495	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6569497	0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs6569504	1.00[CHD][hapmap]
rs6909510	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6909829	1.00[CHD][hapmap]
rs6919416	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6921497	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6929441	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7749538	0.88[EUR][1000 genomes]
rs7749800	0.88[EUR][1000 genomes]
rs7754603	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7761797	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7765261	0.92[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7766541	0.92[CEU][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9388583	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][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	nsv966660	chr6:127838481-127890221	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830798	chr6:127841026-127987850	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127841400-127843800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:127841600-127843800	Weak transcription	A549	lung

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