Variant report

Variant	rs56782018
Chromosome Location	chr19:35810459-35810460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
2	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
3	chr19:35604701..35607129-chr19:35809231..35811359,2	MCF-7	breast:
4	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
5	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:

Variant related genes	Relation type
ENSG00000089356	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000269553	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16970196	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970204	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56094415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58914884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254710	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73599074	0.85[AMR][1000 genomes]
rs73599079	1.00[AMR][1000 genomes]
rs73599089	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active 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	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1006379	chr19:35798572-35810821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35798200-35811400	Weak transcription	Liver	Liver
2	chr19:35804200-35811000	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:35805600-35811400	Enhancers	K562	blood
4	chr19:35806800-35810600	Enhancers	Primary B cells from cord blood	blood
5	chr19:35807800-35812000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:35807800-35815800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:35808000-35811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:35808000-35812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:35808000-35812800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:35808200-35812000	Enhancers	Placenta	Placenta
11	chr19:35808400-35812000	Enhancers	Spleen	Spleen
12	chr19:35808600-35810600	Enhancers	HepG2	liver
13	chr19:35808600-35811600	Enhancers	Fetal Muscle Trunk	muscle
14	chr19:35808600-35812000	Enhancers	Brain Cingulate Gyrus	brain
15	chr19:35808800-35810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:35808800-35811000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:35809200-35810600	Enhancers	NHEK	skin
18	chr19:35809400-35810600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:35809400-35810600	Flanking Active TSS	Hela-S3	cervix
20	chr19:35809400-35810600	Enhancers	HMEC	breast
21	chr19:35809400-35810600	Enhancers	NHLF	lung
22	chr19:35809400-35810800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:35809400-35811600	Enhancers	NHDF-Ad	bronchial
24	chr19:35809400-35812000	Enhancers	Brain Substantia Nigra	brain
25	chr19:35809400-35812200	Enhancers	Brain Hippocampus Middle	brain
26	chr19:35809600-35810600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:35809600-35810600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:35809600-35810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:35809600-35810600	Enhancers	Left Ventricle	heart
30	chr19:35809600-35810600	Enhancers	Right Atrium	heart
31	chr19:35809600-35810600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr19:35809600-35810600	Enhancers	HUVEC	blood vessel
33	chr19:35809600-35810600	Enhancers	Osteobl	bone
34	chr19:35809600-35811600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr19:35809600-35812000	Enhancers	Brain Angular Gyrus	brain
36	chr19:35809600-35812200	Enhancers	GM12878-XiMat	blood
37	chr19:35809800-35810600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr19:35809800-35810600	Enhancers	Right Ventricle	heart
39	chr19:35809800-35811800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr19:35809800-35812000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr19:35809800-35812200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr19:35810000-35810600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:35810000-35811000	Weak transcription	Fetal Thymus	thymus
44	chr19:35810000-35812000	Enhancers	Brain Anterior Caudate	brain
45	chr19:35810000-35812000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr19:35810000-35812200	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:35810200-35810600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr19:35810200-35810600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:35810200-35811000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:35810200-35811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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