Variant report

Variant	rs60593953
Chromosome Location	chr19:18586940-18586941
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	FOXA1	chr19:18586413-18586943	HepG2	liver:	n/a	n/a
2	FOXA2	chr19:18586202-18587225	HepG2	liver:	n/a	n/a
3	TEAD4	chr19:18586445-18586941	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18585110..18587475-chr19:18684025..18685972,2	MCF-7	breast:
2	chr19:18586856..18589889-chr19:18592083..18594396,3	K562	blood:
3	chr19:18586851..18588774-chr19:18681838..18684169,2	MCF-7	breast:
4	chr19:18586402..18589298-chr19:18680966..18684505,3	K562	blood:

Variant related genes	Relation type
ELL	TF binding region
ENSG00000221983	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28537851	1.00[AMR][1000 genomes]
rs4432374	1.00[AFR][1000 genomes]
rs57930417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
2	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
6	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18571800-18589600	Weak transcription	HUVEC	blood vessel
2	chr19:18572200-18589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:18572600-18592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:18575600-18587000	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18575800-18590800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:18576200-18590800	Weak transcription	Aorta	Aorta
8	chr19:18576400-18589600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:18576800-18587600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:18576800-18591000	Weak transcription	Fetal Brain Female	brain
11	chr19:18578400-18589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:18578400-18589400	Weak transcription	NH-A	brain
13	chr19:18580000-18588800	Weak transcription	HMEC	breast
14	chr19:18581000-18589800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:18581400-18595600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:18581600-18588000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:18581600-18597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:18581800-18588200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:18581800-18588200	Weak transcription	Hela-S3	cervix
20	chr19:18581800-18589400	Weak transcription	NHLF	lung
21	chr19:18581800-18589600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:18581800-18590000	Weak transcription	Dnd41	blood
23	chr19:18582000-18587600	Weak transcription	K562	blood
24	chr19:18582000-18589200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:18582400-18589600	Weak transcription	Thymus	Thymus
26	chr19:18583400-18589600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:18583400-18592400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:18583600-18587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:18583600-18587600	Weak transcription	Fetal Thymus	thymus
30	chr19:18583600-18589000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:18583600-18589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:18583600-18590000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:18583800-18588600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:18583800-18590800	Enhancers	Duodenum Mucosa	Duodenum
35	chr19:18583800-18592600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr19:18584000-18587800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:18584000-18588000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr19:18584000-18589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:18584000-18589200	Weak transcription	Osteobl	bone
40	chr19:18584000-18589400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:18584000-18592000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr19:18584000-18592400	Enhancers	Right Ventricle	heart
43	chr19:18584000-18592800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:18584200-18588000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr19:18584200-18589000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:18584200-18591800	Enhancers	Fetal Muscle Trunk	muscle
47	chr19:18584200-18592400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:18584400-18587600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr19:18584600-18587000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr19:18584600-18588000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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