Variant report

Variant	rs36220987
Chromosome Location	chr19:42932275-42932276
allele	C/T
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	GATA3	chr19:42932237-42932437	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:

Variant related genes	Relation type
LIPE	TF binding region
ENSG00000268605	TF binding region
ENSG00000213904	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000268605	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34623222	1.00[AFR][1000 genomes]
rs45597032	0.89[AMR][1000 genomes]
rs73033448	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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	15 gene(s)	inside rSNPs	diseases
4	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928600-42936600	Weak transcription	Right Atrium	heart
2	chr19:42928600-42936800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:42928600-42937000	Weak transcription	Brain Substantia Nigra	brain
4	chr19:42928800-42932600	Weak transcription	Brain Angular Gyrus	brain
5	chr19:42928800-42937200	Weak transcription	Lung	lung
6	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
7	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
8	chr19:42928800-42937600	Weak transcription	Gastric	stomach
9	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
10	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:42929400-42936600	Weak transcription	Right Ventricle	heart
12	chr19:42929400-42937000	Weak transcription	Fetal Intestine Small	intestine
13	chr19:42929400-42937400	Weak transcription	Spleen	Spleen
14	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:42930400-42933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:42930600-42933200	Enhancers	Brain Anterior Caudate	brain
17	chr19:42930800-42932600	Enhancers	Fetal Stomach	stomach
18	chr19:42931000-42932600	Enhancers	Fetal Heart	heart
19	chr19:42931000-42932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:42931000-42933000	Enhancers	Fetal Intestine Large	intestine
21	chr19:42931200-42932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:42931400-42937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:42931600-42933000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:42931600-42934600	Enhancers	Adipose Nuclei	Adipose
25	chr19:42931600-42936600	Weak transcription	Left Ventricle	heart
26	chr19:42931600-42937000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:42931600-42937200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:42931600-42937600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:42931800-42936800	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:42931800-42937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links