Variant report

Variant	rs17040390
Chromosome Location	chr4:110310026-110310027
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	chr4:110308992..110311628-chr4:110320661..110323611,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002595	0.88[MEX][hapmap]
rs10016533	0.88[MEX][hapmap]
rs11929713	0.86[MEX][hapmap]
rs11933172	0.86[MEX][hapmap]
rs11942858	0.86[MEX][hapmap]
rs13103034	0.86[MEX][hapmap]
rs13110999	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs13122093	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs13123618	0.88[MEX][hapmap]
rs13128445	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs13140373	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs13141018	0.91[EUR][1000 genomes]
rs13142698	0.88[MEX][hapmap]
rs13145066	0.86[MEX][hapmap]
rs13147221	0.91[EUR][1000 genomes]
rs13147935	0.86[EUR][1000 genomes]
rs17040388	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040436	0.86[MEX][hapmap]
rs17040439	0.86[MEX][hapmap]
rs17040461	0.86[MEX][hapmap]
rs28681408	0.88[MEX][hapmap]
rs34011966	0.97[EUR][1000 genomes]
rs34286241	0.91[EUR][1000 genomes]
rs34839743	0.91[EUR][1000 genomes]
rs35525444	0.92[EUR][1000 genomes]
rs6533434	0.88[MEX][hapmap]
rs66650623	0.92[EUR][1000 genomes]
rs6818911	0.88[MEX][hapmap]
rs6825928	1.00[MEX][hapmap]
rs6826810	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6835683	0.88[MEX][hapmap]
rs6841198	0.88[MEX][hapmap]
rs6854151	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714586	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs7436583	0.88[MEX][hapmap]
rs7675602	0.88[MEX][hapmap]
rs7681671	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691652	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9999570	0.88[MEX][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1799708	chr4:110309234-110333106	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110305600-110310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110306600-110316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:110307800-110310200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:110307800-110310200	Weak transcription	Fetal Heart	heart
5	chr4:110308800-110310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:110308800-110310600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:110309200-110310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:110309600-110310200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:110309600-110310600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:110309600-110310800	Enhancers	GM12878-XiMat	blood
11	chr4:110309600-110311000	Enhancers	Fetal Kidney	kidney
12	chr4:110309600-110311200	Enhancers	HSMM	muscle
13	chr4:110309800-110311200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:110310000-110310200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:110310000-110310200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:110310000-110310200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:110310000-110310800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:110310000-110311000	Enhancers	HSMMtube	muscle
19	chr4:110310000-110311200	Enhancers	Ovary	ovary
20	chr4:110310000-110311400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links