Variant report

Variant	rs16975750
Chromosome Location	chr19:42931004-42931005
allele	A/G
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
ENSG00000213904	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000268605	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10402245	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10405152	0.81[AMR][1000 genomes]
rs10405410	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10405891	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411253	1.00[EUR][1000 genomes]
rs10414969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416062	1.00[EUR][1000 genomes]
rs10416915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417560	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418997	0.81[AMR][1000 genomes]
rs10422000	1.00[EUR][1000 genomes]
rs10422191	0.81[AMR][1000 genomes]
rs10422283	0.81[AFR][1000 genomes]
rs10423047	1.00[EUR][1000 genomes]
rs10423136	1.00[EUR][1000 genomes]
rs10425139	1.00[EUR][1000 genomes]
rs11880554	1.00[TSI][hapmap]
rs11882701	0.81[AMR][1000 genomes]
rs13343840	0.81[AMR][1000 genomes]
rs13345659	0.93[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975743	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975799	1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs16975862	0.81[AMR][1000 genomes]
rs17340417	0.92[AMR][1000 genomes]
rs28448880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514561	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625452	0.81[AMR][1000 genomes]
rs35623577	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	1.00[TSI][hapmap]
rs6509019	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7245385	1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251638	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7252470	1.00[EUR][1000 genomes]
rs7254369	0.92[AMR][1000 genomes]
rs7254839	1.00[EUR][1000 genomes]
rs7255015	1.00[EUR][1000 genomes]
rs73556352	1.00[EUR][1000 genomes]
rs73556356	1.00[EUR][1000 genomes]
rs8102976	1.00[EUR][1000 genomes]
rs8103108	1.00[EUR][1000 genomes]
rs8104731	0.81[AMR][1000 genomes]
rs8105525	1.00[TSI][hapmap]
rs9917002	0.81[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928600-42931600	Weak transcription	Fetal Lung	lung
2	chr19:42928600-42936600	Weak transcription	Right Atrium	heart
3	chr19:42928600-42936800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:42928600-42937000	Weak transcription	Brain Substantia Nigra	brain
5	chr19:42928800-42932600	Weak transcription	Brain Angular Gyrus	brain
6	chr19:42928800-42937200	Weak transcription	Lung	lung
7	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
8	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
9	chr19:42928800-42937600	Weak transcription	Gastric	stomach
10	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
11	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:42929400-42936600	Weak transcription	Right Ventricle	heart
13	chr19:42929400-42937000	Weak transcription	Fetal Intestine Small	intestine
14	chr19:42929400-42937400	Weak transcription	Spleen	Spleen
15	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:42930400-42933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:42930600-42931200	Bivalent Enhancer	HepG2	liver
18	chr19:42930600-42931600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:42930600-42931600	Enhancers	Left Ventricle	heart
20	chr19:42930600-42933200	Enhancers	Brain Anterior Caudate	brain
21	chr19:42930800-42931600	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:42930800-42931600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr19:42930800-42932600	Enhancers	Fetal Stomach	stomach
24	chr19:42931000-42931200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr19:42931000-42931200	Enhancers	Psoas Muscle	Psoas
26	chr19:42931000-42931400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr19:42931000-42931600	Enhancers	NHDF-Ad	bronchial
28	chr19:42931000-42931800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:42931000-42931800	Enhancers	Brain Hippocampus Middle	brain
30	chr19:42931000-42932600	Enhancers	Fetal Heart	heart
31	chr19:42931000-42932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:42931000-42933000	Enhancers	Fetal Intestine Large	intestine

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