Variant report

Variant	rs139625873
Chromosome Location	chr19:37860609-37860610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37860556-37861105	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:37860562-37861047	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37851946..37854387-chr19:37859960..37862069,2	MCF-7	breast:
2	chr19:37860446..37862285-chr19:38041060..38043682,2	K562	blood:

Variant related genes	Relation type
ZNF527	TF binding region
ENSG00000181666	Chromatin interaction
ENSG00000171817	Chromatin interaction
ENSG00000267470	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:37854200-37861200	Weak transcription	Psoas Muscle	Psoas
3	chr19:37854200-37861400	Weak transcription	Small Intestine	intestine
4	chr19:37855000-37861400	Weak transcription	Fetal Heart	heart
5	chr19:37855000-37861600	Weak transcription	Aorta	Aorta
6	chr19:37855200-37860800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:37855200-37861000	Weak transcription	Right Ventricle	heart
8	chr19:37855200-37861200	Weak transcription	Left Ventricle	heart
9	chr19:37855200-37861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:37855200-37861400	Weak transcription	Fetal Brain Male	brain
11	chr19:37855200-37861400	Weak transcription	NH-A	brain
12	chr19:37855400-37860800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:37855400-37860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:37855400-37861000	Weak transcription	Fetal Kidney	kidney
15	chr19:37855400-37861400	Weak transcription	Hela-S3	cervix
16	chr19:37855600-37860800	Weak transcription	Brain Angular Gyrus	brain
17	chr19:37855600-37861200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:37855600-37861200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:37855600-37861400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:37855600-37861400	Weak transcription	Ovary	ovary
21	chr19:37855600-37861400	Weak transcription	HSMMtube	muscle
22	chr19:37855600-37861400	Weak transcription	Osteobl	bone
23	chr19:37855800-37860800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:37855800-37861200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:37855800-37861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:37855800-37861400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:37856400-37861400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:37856400-37861400	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:37856600-37860800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:37856600-37860800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:37856800-37861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:37856800-37861200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:37856800-37861200	Weak transcription	Fetal Lung	lung
34	chr19:37857000-37860800	Weak transcription	Adipose Nuclei	Adipose
35	chr19:37857000-37861200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:37857000-37861400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:37857200-37861200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:37857400-37860800	Weak transcription	NHDF-Ad	bronchial
39	chr19:37860200-37861000	ZNF genes & repeats	A549	lung
40	chr19:37860400-37861000	ZNF genes & repeats	Liver	Liver
41	chr19:37860400-37861200	Enhancers	Primary T cells from cord blood	blood
42	chr19:37860400-37861400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr19:37860600-37860800	Enhancers	Duodenum Mucosa	Duodenum
44	chr19:37860600-37861200	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr19:37860600-37861400	Flanking Active TSS	Dnd41	blood
46	chr19:37860600-37862400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:37860600-37862400	Active TSS	Stomach Smooth Muscle	stomach
48	chr19:37860600-37862600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr19:37860600-37862600	Active TSS	Stomach Mucosa	stomach
50	chr19:37860600-37862600	Active TSS	GM12878-XiMat	blood

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