Variant report

Variant	rs7743188
Chromosome Location	chr6:54773639-54773640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54768464..54771380-chr6:54772937..54774749,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1028423	0.83[ASN][1000 genomes]
rs1056630	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13216252	0.85[AFR][1000 genomes]
rs1503137	1.00[CHB][hapmap]
rs1503150	1.00[CHB][hapmap]
rs16886072	1.00[CHB][hapmap]
rs16886073	1.00[CHB][hapmap]
rs16886088	1.00[CHB][hapmap]
rs16886105	1.00[CHB][hapmap]
rs171226	0.83[ASN][1000 genomes]
rs183011	0.83[ASN][1000 genomes]
rs1910352	1.00[CHB][hapmap]
rs2397176	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs239780	0.83[ASN][1000 genomes]
rs239787	1.00[CHB][hapmap]
rs239788	1.00[CHB][hapmap]
rs239789	1.00[CHB][hapmap]
rs239791	1.00[CHB][hapmap]
rs239793	1.00[CHB][hapmap]
rs239798	1.00[CHB][hapmap]
rs239802	1.00[CHB][hapmap]
rs239805	1.00[CHB][hapmap]
rs239823	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239824	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239827	0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239828	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs239829	1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239830	1.00[CHB][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239831	1.00[CHB][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239832	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239833	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239834	1.00[CHB][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239835	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239836	1.00[CHB][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239838	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239839	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239840	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239841	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239842	0.83[ASN][1000 genomes]
rs239843	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239844	0.83[ASN][1000 genomes]
rs239845	0.83[ASN][1000 genomes]
rs239846	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239847	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs239848	1.00[CHB][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs239849	0.83[ASN][1000 genomes]
rs239852	1.00[CHB][hapmap]
rs239853	1.00[CHB][hapmap]
rs2746440	1.00[CHB][hapmap]
rs35620314	0.85[AFR][1000 genomes]
rs398483	1.00[CHB][hapmap]
rs406149	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs41431945	1.00[CHB][hapmap]
rs57835829	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917766	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73431470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7453441	1.00[CHB][hapmap]
rs7739951	1.00[CHB][hapmap]
rs7773204	1.00[CHB][hapmap]
rs7774568	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9349735	1.00[CHB][hapmap]
rs9367588	1.00[CHB][hapmap]
rs9367589	1.00[CHB][hapmap]
rs9367596	1.00[CHB][hapmap]
rs9370335	1.00[CHB][hapmap]
rs9382377	1.00[CHB][hapmap]
rs9382388	1.00[CHB][hapmap]
rs9395992	1.00[CHB][hapmap]
rs9475077	1.00[CHB][hapmap]

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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:54762000-54775000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:54762200-54775000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:54763600-54775000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:54765600-54774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:54765800-54780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:54769000-54780800	Weak transcription	NHEK	skin
8	chr6:54770000-54775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:54770000-54775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:54770000-54781200	Weak transcription	HMEC	breast
11	chr6:54772600-54774600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:54773000-54774600	Weak transcription	Fetal Lung	lung

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