Variant report

Variant	rs17028834
Chromosome Location	chr4:100232600-100232601
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	chr4:100231557..100233908-chr4:100237578..100239506,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17028505	1.00[AMR][1000 genomes]
rs28364319	1.00[AMR][1000 genomes]
rs28730571	1.00[AMR][1000 genomes]
rs29001339	1.00[AMR][1000 genomes]
rs55820222	1.00[AMR][1000 genomes]
rs59728850	1.00[AMR][1000 genomes]
rs6532799	0.89[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6828819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6831854	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897134	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901287	1.00[AMR][1000 genomes]
rs72901294	1.00[AMR][1000 genomes]
rs72901295	1.00[AMR][1000 genomes]
rs72901301	0.99[AFR][1000 genomes]
rs72902903	0.99[AFR][1000 genomes]
rs72902904	0.99[AFR][1000 genomes]
rs7684674	1.00[AMR][1000 genomes]
rs7689911	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3446139	chr4:100213459-100244162	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17028834	MTTP	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100215200-100232600	Weak transcription	Aorta	Aorta
2	chr4:100223200-100237000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:100223600-100232800	Weak transcription	NHDF-Ad	bronchial
4	chr4:100228000-100233400	Strong transcription	Adipose Nuclei	Adipose
5	chr4:100228400-100235400	Strong transcription	Liver	Liver
6	chr4:100230800-100234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:100230800-100234000	Strong transcription	Ovary	ovary
8	chr4:100231000-100238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:100231000-100243000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:100231200-100233000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:100231200-100242800	Weak transcription	Gastric	stomach
12	chr4:100232200-100233400	Genic enhancers	Fetal Lung	lung
13	chr4:100232600-100232800	ZNF genes & repeats	Aorta	Aorta

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