Variant report

Variant	rs16975748
Chromosome Location	chr19:42930773-42930774
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079435	Chromatin interaction
ENSG00000268605	Chromatin interaction
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34044249	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34097578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34147019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366776	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34381435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34637823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34760209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34923099	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35135831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35266309	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35312827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35349390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35409716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35544765	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855384	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969273	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	1.00[EUR][1000 genomes]
rs7253354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	1.00[EUR][1000 genomes]
rs73936032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105476	1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription 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
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928400-42931000	Weak transcription	NHDF-Ad	bronchial
2	chr19:42928600-42931600	Weak transcription	Fetal Lung	lung
3	chr19:42928600-42936600	Weak transcription	Right Atrium	heart
4	chr19:42928600-42936800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:42928600-42937000	Weak transcription	Brain Substantia Nigra	brain
6	chr19:42928800-42930800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:42928800-42930800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:42928800-42931000	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:42928800-42932600	Weak transcription	Brain Angular Gyrus	brain
10	chr19:42928800-42937200	Weak transcription	Lung	lung
11	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
12	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
13	chr19:42928800-42937600	Weak transcription	Gastric	stomach
14	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
15	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:42929200-42931000	Active TSS	Adipose Nuclei	Adipose
17	chr19:42929400-42931000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:42929400-42936600	Weak transcription	Right Ventricle	heart
19	chr19:42929400-42937000	Weak transcription	Fetal Intestine Small	intestine
20	chr19:42929400-42937400	Weak transcription	Spleen	Spleen
21	chr19:42929600-42931000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:42929800-42930800	Weak transcription	Fetal Stomach	stomach
24	chr19:42929800-42931000	Weak transcription	Fetal Heart	heart
25	chr19:42930400-42933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:42930600-42931200	Bivalent Enhancer	HepG2	liver
27	chr19:42930600-42931600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:42930600-42931600	Enhancers	Left Ventricle	heart
29	chr19:42930600-42933200	Enhancers	Brain Anterior Caudate	brain

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