Variant report

Variant	rs57088533
Chromosome Location	chr19:52223266-52223267
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	E2F6	chr19:52222330-52223294	H1-hESC	embryonic stem cell:	n/a	chr19:52222371-52222380

Variant related genes	Relation type
HAS1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11084113	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11667949	0.82[AFR][1000 genomes]
rs1551155	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4802854	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4802855	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7248778	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
12	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
13	nsv1059148	chr19:52211749-52359815	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv912297	chr19:52213743-52227066	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52222000-52223400	Active TSS	Brain Angular Gyrus	brain
2	chr19:52222000-52223600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:52222000-52223600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
4	chr19:52222200-52223400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:52222200-52223400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:52222200-52223400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:52222200-52223400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr19:52222200-52223600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr19:52222200-52223600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:52222200-52223600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:52222200-52223600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:52222200-52223600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr19:52222400-52223400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:52222400-52223400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:52222400-52223400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr19:52222400-52223400	Active TSS	Brain Substantia Nigra	brain
17	chr19:52222400-52223400	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr19:52222400-52223600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr19:52222400-52223600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:52222400-52223600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:52222400-52224000	Active TSS	HSMM	muscle
22	chr19:52222600-52223400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:52222600-52223400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr19:52222600-52223400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:52222600-52223400	Bivalent/Poised TSS	Osteobl	bone
26	chr19:52222800-52223400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr19:52222800-52223400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52222800-52223400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:52223000-52223400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr19:52223000-52223400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:52223000-52223400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr19:52223000-52226800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:52223200-52223400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:52223200-52223400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr19:52223200-52223400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
36	chr19:52223200-52223400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr19:52223200-52223400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr19:52223200-52223400	Bivalent/Poised TSS	Fetal Lung	lung
39	chr19:52223200-52223400	Active TSS	Ovary	ovary
40	chr19:52223200-52223600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:52223200-52223600	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr19:52223200-52226400	Weak transcription	Spleen	Spleen
43	chr19:52223200-52227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:52223200-52227800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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