Variant report

Variant	rs33999735
Chromosome Location	chr4:129932906-129932907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10518543	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12648004	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12651152	0.87[AMR][1000 genomes]
rs13106626	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124870	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127992	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13136209	0.93[ASN][1000 genomes]
rs13138537	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13139306	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17014149	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17014190	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17184802	0.96[ASN][1000 genomes]
rs2068135	0.90[ASN][1000 genomes]
rs2068136	0.93[ASN][1000 genomes]
rs28643269	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34302928	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35053690	0.96[ASN][1000 genomes]
rs35128288	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35149191	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35199409	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35349408	0.87[AMR][1000 genomes]
rs35388412	0.96[ASN][1000 genomes]
rs35412182	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36000518	0.93[ASN][1000 genomes]
rs36101862	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36128858	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71612199	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs71613905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613908	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129868200-129935600	Weak transcription	HSMM	muscle
2	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:129911400-129936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129917400-129935800	Weak transcription	Pancreas	Pancrea
5	chr4:129917400-129936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129917400-129936200	Weak transcription	Left Ventricle	heart
7	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:129920600-129936000	Weak transcription	Fetal Thymus	thymus
9	chr4:129930200-129935800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:129930800-129936200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:129931200-129935800	Weak transcription	Thymus	Thymus
12	chr4:129931600-129935600	Weak transcription	Dnd41	blood
13	chr4:129931600-129936000	Weak transcription	Colonic Mucosa	Colon
14	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum

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