Variant report

Variant	rs17039235
Chromosome Location	chr2:47729065-47729066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17036636	0.96[EUR][1000 genomes]
rs17036645	0.82[EUR][1000 genomes]
rs17218293	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17218439	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17218550	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17224262	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17224794	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3923035	0.85[EUR][1000 genomes]
rs59280186	0.84[EUR][1000 genomes]
rs6741393	0.86[CEU][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs6757620	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72884684	0.84[EUR][1000 genomes]
rs72888234	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888253	0.96[EUR][1000 genomes]
rs72888263	0.84[AFR][1000 genomes]
rs73927791	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS 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
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47727200-47729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:47727800-47731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:47727800-47732200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:47728200-47729800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:47728400-47729200	Enhancers	NHDF-Ad	bronchial
6	chr2:47728400-47729400	Enhancers	HMEC	breast
7	chr2:47728400-47729600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:47728400-47729600	Enhancers	NHEK	skin
9	chr2:47728400-47729800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:47728400-47730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:47728400-47730200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:47728600-47729200	Enhancers	Dnd41	blood
13	chr2:47728600-47729400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:47728600-47729400	Enhancers	Osteobl	bone
15	chr2:47728600-47729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:47728800-47729200	Enhancers	Hela-S3	cervix
17	chr2:47728800-47729200	Flanking Active TSS	HUVEC	blood vessel
18	chr2:47728800-47729200	Flanking Active TSS	NH-A	brain
19	chr2:47729000-47729200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:47729000-47729800	Enhancers	GM12878-XiMat	blood
21	chr2:47729000-47730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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