Variant report

Variant	rs533123005
Chromosome Location	chr19:53038497-53038498
allele	G/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	ELF1	chr19:53038439-53038911	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:53038420-53040018	H1-hESC	embryonic stem cell:	n/a	n/a
3	PAX5	chr19:53038469-53038981	GM12878	blood:	n/a	n/a
4	MXI1	chr19:53038426-53040206	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53029459..53032258-chr19:53036873..53039549,6	MCF-7	breast:
2	chr19:53031656..53034156-chr19:53037494..53039065,2	MCF-7	breast:

Variant related genes	Relation type
ZNF808	TF binding region
ENSG00000198482	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1055859	chr19:53001299-53041119	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
10	nsv1060656	chr19:53001299-53041995	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr19:53031800-53038600	Weak transcription	Aorta	Aorta
2	chr19:53031800-53038800	Weak transcription	Ovary	ovary
3	chr19:53032000-53038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:53032000-53038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:53032000-53038600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:53032000-53038600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:53032000-53038600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:53032000-53038600	Weak transcription	HMEC	breast
9	chr19:53032000-53038600	Weak transcription	HSMM	muscle
10	chr19:53032000-53038600	Weak transcription	HUVEC	blood vessel
11	chr19:53032000-53038600	Weak transcription	NH-A	brain
12	chr19:53032000-53038600	Weak transcription	NHDF-Ad	bronchial
13	chr19:53032000-53038600	Weak transcription	Osteobl	bone
14	chr19:53032000-53038800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:53032000-53038800	Weak transcription	Small Intestine	intestine
16	chr19:53032000-53039000	Weak transcription	HSMMtube	muscle
17	chr19:53032200-53038600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:53032200-53038600	Weak transcription	NHLF	lung
19	chr19:53032200-53039400	Weak transcription	Stomach Mucosa	stomach
20	chr19:53032200-53057000	Weak transcription	Hela-S3	cervix
21	chr19:53032400-53038600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:53032400-53038600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:53032400-53038600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:53032400-53038800	Weak transcription	Fetal Kidney	kidney
25	chr19:53032400-53038800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:53032600-53038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:53032600-53038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:53032600-53038600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:53032600-53038600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:53032600-53038600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:53032600-53038600	Weak transcription	Brain Anterior Caudate	brain
32	chr19:53032600-53038600	Weak transcription	Fetal Thymus	thymus
33	chr19:53032600-53038600	Weak transcription	Pancreas	Pancrea
34	chr19:53032600-53038600	Weak transcription	NHEK	skin
35	chr19:53032600-53038800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:53032600-53039200	Weak transcription	Spleen	Spleen
37	chr19:53032600-53049800	Weak transcription	HepG2	liver
38	chr19:53033800-53040200	ZNF genes & repeats	Liver	Liver
39	chr19:53036200-53038600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr19:53036400-53038600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:53036400-53038600	Enhancers	Placenta	Placenta
42	chr19:53036400-53038600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr19:53036400-53040000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:53036400-53040400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
45	chr19:53036600-53038600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr19:53037000-53038600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:53037000-53038600	Enhancers	Adipose Nuclei	Adipose
48	chr19:53037000-53038600	Weak transcription	Psoas Muscle	Psoas
49	chr19:53037000-53039200	Enhancers	Fetal Heart	heart
50	chr19:53037200-53038800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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