Variant report

Variant	rs72938719
Chromosome Location	chr3:50515700-50515701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17050967	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050977	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57278600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113322	0.88[AFR][1000 genomes]
rs59164803	1.00[AMR][1000 genomes]
rs61601450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934837	1.00[AMR][1000 genomes]
rs72936957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936980	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936982	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936987	0.85[AFR][1000 genomes]
rs72936989	0.88[AFR][1000 genomes]
rs72937000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937001	0.88[AFR][1000 genomes]
rs72938708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938712	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50492600-50528400	Weak transcription	Gastric	stomach
2	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:50508800-50517000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:50509200-50517000	Weak transcription	Fetal Stomach	stomach
7	chr3:50510000-50518600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:50510200-50517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:50511600-50518600	Weak transcription	Lung	lung
10	chr3:50512000-50523000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:50512600-50518400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:50512600-50524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:50512800-50516000	Weak transcription	Fetal Lung	lung
14	chr3:50512800-50518000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:50512800-50518000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:50513000-50518400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:50513000-50527400	Weak transcription	Right Atrium	heart
18	chr3:50513200-50517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:50514200-50518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:50515000-50516200	Enhancers	Liver	Liver
21	chr3:50515200-50515800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:50515400-50515800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:50515600-50515800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:50515600-50519000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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