Variant report

Variant	rs539920285
Chromosome Location	chr19:18702234-18702235
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18667532..18669047-chr19:18700926..18702885,2	K562	blood:
2	chr19:18700909..18703252-chr19:18712659..18714202,2	MCF-7	breast:
3	chr19:18700263..18702427-chr19:18963644..18966228,2	K562	blood:
4	chr19:18653459..18656385-chr19:18699225..18703130,9	K562	blood:
5	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
6	chr19:18630919..18637145-chr19:18698949..18704438,10	K562	blood:
7	chr19:18682401..18684687-chr19:18702171..18705609,4	MCF-7	breast:
8	chr19:18700524..18703188-chr19:18747828..18749371,2	K562	blood:
9	chr19:18560048..18561814-chr19:18700604..18703327,3	K562	blood:
10	chr19:18653476..18656385-chr19:18700159..18703130,5	K562	blood:
11	chr19:18629422..18634718-chr19:18699285..18702887,8	K562	blood:
12	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction
ENSG00000268983	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000105655	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18700400-18705400	Weak transcription	Aorta	Aorta
2	chr19:18700400-18705400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:18700800-18704600	Weak transcription	Small Intestine	intestine
4	chr19:18700800-18705200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:18701000-18702400	Strong transcription	NHLF	lung
6	chr19:18701000-18702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:18701000-18704400	Weak transcription	Stomach Mucosa	stomach
8	chr19:18701000-18704400	Weak transcription	Osteobl	bone
9	chr19:18701000-18705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:18701000-18705000	Weak transcription	Liver	Liver
11	chr19:18701000-18705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:18701000-18705000	Weak transcription	Brain Substantia Nigra	brain
13	chr19:18701000-18705000	Weak transcription	Psoas Muscle	Psoas
14	chr19:18701000-18705400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:18701200-18703400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:18701200-18704000	Weak transcription	Placenta	Placenta
17	chr19:18701200-18704400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:18701200-18705000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:18701200-18705000	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:18701200-18705000	Weak transcription	HUVEC	blood vessel
21	chr19:18701200-18713600	Weak transcription	HSMMtube	muscle
22	chr19:18701400-18703000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr19:18701400-18703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:18701400-18703200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr19:18701400-18703200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr19:18701400-18703200	Strong transcription	Thymus	Thymus
27	chr19:18701400-18703200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr19:18701400-18703400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:18701400-18704000	Weak transcription	HSMM	muscle
30	chr19:18701400-18704200	Weak transcription	Right Atrium	heart
31	chr19:18701400-18704600	Weak transcription	NH-A	brain
32	chr19:18701400-18704800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:18701400-18704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:18701400-18705000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:18701400-18706200	Weak transcription	HepG2	liver
36	chr19:18701600-18703000	Strong transcription	Fetal Thymus	thymus
37	chr19:18701600-18703200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:18701600-18703200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:18701600-18703200	Genic enhancers	Adipose Nuclei	Adipose
40	chr19:18701600-18703200	Strong transcription	Fetal Intestine Large	intestine
41	chr19:18701600-18703400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:18701600-18703400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:18701600-18703400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:18701600-18704200	Weak transcription	GM12878-XiMat	blood
45	chr19:18701600-18704800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:18701600-18705400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:18701600-18705400	Weak transcription	Fetal Heart	heart
48	chr19:18701800-18702600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:18701800-18702800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:18701800-18703200	Strong transcription	Primary T cells from cord blood	blood

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