Variant report

Variant	rs1685566
Chromosome Location	chr19:42816896-42816897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42815915..42818218-chr19:42827601..42831204,3	MCF-7	breast:
2	chr19:42804822..42808346-chr19:42815036..42819132,8	MCF-7	breast:
3	chr19:42808508..42812902-chr19:42814472..42818712,4	MCF-7	breast:
4	chr19:42814347..42817419-chr19:42838492..42840570,3	K562	blood:
5	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:
6	chr19:42816448..42818844-chr19:42899476..42901532,2	K562	blood:
7	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
8	chr19:42740830..42743417-chr19:42815153..42817394,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213904	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000188368	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1206030	0.87[AFR][1000 genomes]
rs1206036	0.87[AFR][1000 genomes]
rs1206037	0.91[AFR][1000 genomes]
rs1206039	0.83[AFR][1000 genomes]
rs1654624	0.87[AFR][1000 genomes]
rs1685564	0.95[AFR][1000 genomes]
rs2615615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851291	0.86[AFR][1000 genomes]
rs851295	0.87[AFR][1000 genomes]
rs851611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851614	1.00[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	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	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42807200-42817200	Weak transcription	Right Atrium	heart
2	chr19:42808200-42817000	Weak transcription	K562	blood
3	chr19:42811400-42817200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:42814600-42817200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:42814600-42821200	Enhancers	Fetal Brain Male	brain
6	chr19:42815800-42817000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:42815800-42817000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:42815800-42817000	Enhancers	Brain Angular Gyrus	brain
9	chr19:42815800-42817000	Enhancers	Brain Cingulate Gyrus	brain
10	chr19:42815800-42817000	Enhancers	Brain Substantia Nigra	brain
11	chr19:42815800-42817200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:42815800-42817200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:42816200-42817000	Enhancers	Brain Anterior Caudate	brain
14	chr19:42816200-42817000	Enhancers	Brain Germinal Matrix	brain
15	chr19:42816200-42818400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:42816400-42817200	Bivalent Enhancer	Fetal Lung	lung
17	chr19:42816600-42817000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr19:42816600-42817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42816600-42817000	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr19:42816600-42817000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr19:42816600-42817000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr19:42816600-42817000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr19:42816600-42817200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:42816600-42817200	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr19:42816600-42817200	Enhancers	Pancreas	Pancrea
26	chr19:42816600-42817200	Bivalent Enhancer	Dnd41	blood
27	chr19:42816600-42817200	Bivalent Enhancer	HepG2	liver
28	chr19:42816600-42817400	Enhancers	Esophagus	oesophagus
29	chr19:42816600-42818000	Enhancers	Lung	lung
30	chr19:42816600-42818400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr19:42816800-42817000	Active TSS	Fetal Brain Female	brain
32	chr19:42816800-42817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:42816800-42817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:42816800-42817200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr19:42816800-42817200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:42816800-42817200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:42816800-42817200	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr19:42816800-42817200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr19:42816800-42817200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr19:42816800-42817400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:42816800-42817600	Weak transcription	Gastric	stomach
42	chr19:42816800-42817800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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