Variant report

Variant	rs72938708
Chromosome Location	chr3:50493871-50493872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17050967	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57278600	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113322	0.91[AFR][1000 genomes]
rs59164803	1.00[AMR][1000 genomes]
rs61601450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934837	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936959	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936980	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936987	0.88[AFR][1000 genomes]
rs72936989	0.91[AFR][1000 genomes]
rs72937000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937001	0.91[AFR][1000 genomes]
rs72938712	0.91[AFR][1000 genomes]
rs72938719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
5	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
7	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3445182	chr3:50458687-50496660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50484000-50500800	Weak transcription	Pancreas	Pancrea
2	chr3:50488600-50494200	Weak transcription	Right Atrium	heart
3	chr3:50488600-50511200	Weak transcription	Lung	lung
4	chr3:50490400-50494000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:50491200-50494200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:50491200-50494200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:50491200-50494400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:50491600-50494000	Bivalent Enhancer	Fetal Brain Male	brain
9	chr3:50491600-50494000	Enhancers	Fetal Stomach	stomach
10	chr3:50492000-50494000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:50492000-50494000	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:50492600-50501000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:50492600-50528400	Weak transcription	Gastric	stomach
14	chr3:50492800-50494200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:50493400-50494000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:50493600-50494000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:50493600-50494000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:50493600-50494000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:50493600-50495000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:50493800-50494200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:50493800-50496000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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