Variant report

Variant	rs59058760
Chromosome Location	chr19:40811757-40811758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40811339..40811896-chr19:41140074..41141080,5	MCF-7	breast:
2	chr19:40810918..40811946-chr19:41104246..41105234,4	K562	blood:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11666690	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11666860	0.90[EUR][1000 genomes]
rs11667443	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11667768	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11667774	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11668006	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11668520	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669006	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669332	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11670323	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11670860	0.82[EUR][1000 genomes]
rs11670912	0.85[EUR][1000 genomes]
rs11671439	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17846842	0.81[EUR][1000 genomes]
rs2356230	0.87[EUR][1000 genomes]
rs28746190	0.81[EUR][1000 genomes]
rs35090721	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730052	0.82[EUR][1000 genomes]
rs3730055	0.81[EUR][1000 genomes]
rs41275746	0.83[EUR][1000 genomes]
rs41275748	0.81[EUR][1000 genomes]
rs41275750	0.83[EUR][1000 genomes]
rs45497695	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56672337	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58094119	0.83[EUR][1000 genomes]
rs59106111	0.92[EUR][1000 genomes]
rs6508937	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66623822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67587726	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245751	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7247515	0.83[EUR][1000 genomes]
rs7249819	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7252506	0.87[EUR][1000 genomes]
rs73933225	0.83[EUR][1000 genomes]
rs73933232	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933236	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933237	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933238	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933240	0.93[EUR][1000 genomes]
rs73933241	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105478	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs873143	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs874269	0.80[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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
2	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
4	chr19:40793000-40821400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:40793000-40822000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:40793200-40820600	Weak transcription	HSMM	muscle
7	chr19:40793200-40820800	Weak transcription	Dnd41	blood
8	chr19:40793200-40822000	Weak transcription	Fetal Stomach	stomach
9	chr19:40793800-40821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
11	chr19:40800800-40822000	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:40802800-40828000	Weak transcription	NH-A	brain
13	chr19:40803000-40822000	Weak transcription	Lung	lung
14	chr19:40803800-40822000	Weak transcription	Primary T cells from cord blood	blood
15	chr19:40807600-40822200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40808800-40822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:40809000-40822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:40810400-40820600	Weak transcription	K562	blood
19	chr19:40810600-40825800	Weak transcription	Adipose Nuclei	Adipose
20	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
21	chr19:40810800-40811800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:40810800-40826200	Weak transcription	HMEC	breast
23	chr19:40811200-40821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:40811200-40821800	Weak transcription	Liver	Liver
25	chr19:40811200-40822200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:40811200-40822200	Weak transcription	Thymus	Thymus
27	chr19:40811200-40826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:40811400-40811800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:40811400-40811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:40811400-40811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:40811400-40811800	Enhancers	Brain Anterior Caudate	brain
32	chr19:40811400-40811800	Enhancers	Brain Substantia Nigra	brain
33	chr19:40811400-40811800	Enhancers	Fetal Heart	heart
34	chr19:40811400-40811800	Enhancers	Fetal Lung	lung
35	chr19:40811400-40811800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr19:40811400-40811800	Enhancers	A549	lung
37	chr19:40811400-40826600	Weak transcription	NHEK	skin
38	chr19:40811600-40811800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:40811600-40811800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr19:40811600-40826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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