Variant report

Variant	rs571056438
Chromosome Location	chr19:18887030-18887031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18873859..18875560-chr19:18886840..18888488,3	K562	blood:
2	chr19:18836550..18839278-chr19:18885925..18888717,2	K562	blood:
3	chr19:18884413..18887113-chr19:18941934..18943806,2	MCF-7	breast:
4	chr19:18858094..18859912-chr19:18886098..18888648,2	K562	blood:
5	chr19:18848604..18850692-chr19:18885341..18887518,2	K562	blood:
6	chr19:18885317..18890245-chr19:18892616..18897433,6	MCF-7	breast:
7	chr19:18880004..18881941-chr19:18884562..18887049,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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
2	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3423006	chr19:18886977-18889825	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
3	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:18873800-18889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:18873800-18889200	Weak transcription	Left Ventricle	heart
10	chr19:18873800-18895600	Weak transcription	Ovary	ovary
11	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:18875200-18889200	Weak transcription	Adipose Nuclei	Adipose
13	chr19:18876200-18888800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:18876400-18887600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr19:18876400-18888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:18878800-18887200	Strong transcription	Brain Germinal Matrix	brain
17	chr19:18879000-18887600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:18880200-18888000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:18880400-18887600	Weak transcription	Colonic Mucosa	Colon
20	chr19:18880600-18887200	Weak transcription	Brain Substantia Nigra	brain
21	chr19:18880600-18888000	Strong transcription	Fetal Intestine Small	intestine
22	chr19:18880600-18888400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:18880600-18889400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:18880600-18895800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:18880800-18892600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr19:18881000-18887200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:18882000-18890600	Weak transcription	Brain Anterior Caudate	brain
28	chr19:18882600-18888000	Weak transcription	Gastric	stomach
29	chr19:18882800-18887400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18883000-18889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:18883200-18888600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:18883400-18889200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:18883800-18888000	Weak transcription	Fetal Heart	heart
34	chr19:18884200-18893000	Weak transcription	Esophagus	oesophagus
35	chr19:18885600-18887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:18885800-18887200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:18886000-18888400	Weak transcription	Right Ventricle	heart
38	chr19:18886000-18888600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:18886200-18888000	Enhancers	NHLF	lung
40	chr19:18886400-18887400	Strong transcription	Lung	lung
41	chr19:18886400-18887600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:18886400-18888000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:18886400-18889600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:18886600-18887600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:18886600-18887800	Enhancers	HSMM	muscle
46	chr19:18886600-18888000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:18886600-18888000	Enhancers	HMEC	breast
48	chr19:18886600-18888200	Enhancers	NHDF-Ad	bronchial
49	chr19:18886600-18888600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr19:18886800-18887200	Strong transcription	Fetal Intestine Large	intestine

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