Variant report

Variant	rs531411684
Chromosome Location	chr19:45419582-45419583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45391987..45395479-chr19:45416556..45421203,6	K562	blood:

Variant related genes	Relation type
ENSG00000130204	Chromatin interaction
ENSG00000267282	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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3413514	chr19:45418155-45430302	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3360992	chr19:45418805-45430721	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv138296	chr19:45418995-45421297	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45418600-45419600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:45418600-45421200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:45418800-45419600	Enhancers	Fetal Muscle Leg	muscle
4	chr19:45418800-45419600	Enhancers	Placenta	Placenta
5	chr19:45418800-45427400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:45418800-45427600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:45418800-45427600	Weak transcription	Spleen	Spleen
8	chr19:45418800-45430000	Weak transcription	Right Atrium	heart
9	chr19:45419000-45419600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:45419000-45419600	Enhancers	Fetal Muscle Trunk	muscle
11	chr19:45419000-45422600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:45419000-45429800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:45419200-45419600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:45419200-45419600	Weak transcription	A549	lung
15	chr19:45419200-45419800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr19:45419400-45419600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:45419400-45419600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:45419400-45419600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:45419400-45419600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:45419400-45419600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:45419400-45419600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr19:45419400-45419800	Enhancers	Adipose Nuclei	Adipose
23	chr19:45419400-45419800	Transcr. at gene 5' and 3'	HepG2	liver
24	chr19:45419400-45420800	Flanking Active TSS	Liver	Liver

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