Variant report

Variant	rs533493286
Chromosome Location	chr19:56645044-56645045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56644274..56647215-chr19:56650542..56653019,3	MCF-7	breast:
2	chr19:56642703..56647128-chr19:56651543..56655262,4	MCF-7	breast:
3	chr19:56637204..56640116-chr19:56644041..56647745,4	K562	blood:
4	chr19:56632432..56634662-chr19:56644261..56647544,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv3362246	chr19:56644803-56645281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	esv3504235	chr19:56644842-56645235	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv3504236	chr19:56644842-56645235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56634000-56645400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:56637400-56645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:56637800-56645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:56637800-56647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:56638600-56651200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:56638800-56651800	Weak transcription	Spleen	Spleen
7	chr19:56639000-56647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:56639200-56645200	Weak transcription	K562	blood
9	chr19:56639200-56645600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:56640800-56649000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:56642600-56647800	Enhancers	Placenta	Placenta
12	chr19:56643200-56645800	Enhancers	Fetal Muscle Trunk	muscle
13	chr19:56643600-56646200	Enhancers	Primary B cells from cord blood	blood
14	chr19:56643800-56645400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:56644000-56645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:56644000-56645400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:56644000-56651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:56644000-56651200	Weak transcription	Lung	lung
19	chr19:56644000-56651200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:56644200-56645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:56644200-56645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:56644200-56645200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:56644200-56645200	Weak transcription	HSMMtube	muscle
24	chr19:56644200-56645200	Weak transcription	NH-A	brain
25	chr19:56644200-56645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:56644200-56645400	Weak transcription	HepG2	liver
27	chr19:56644200-56645400	Weak transcription	HSMM	muscle
28	chr19:56644200-56645600	Weak transcription	Fetal Muscle Leg	muscle
29	chr19:56644200-56645800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:56644200-56646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:56644200-56646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:56644200-56646000	Enhancers	Osteobl	bone
33	chr19:56644200-56646800	Weak transcription	Liver	Liver
34	chr19:56644200-56647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56644200-56647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:56644200-56647600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:56644200-56647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:56644200-56647600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:56644200-56649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:56644200-56651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:56644200-56651200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:56644200-56651200	Weak transcription	Brain Anterior Caudate	brain
43	chr19:56644200-56651200	Weak transcription	Fetal Kidney	kidney
44	chr19:56644200-56651400	Weak transcription	Right Atrium	heart
45	chr19:56644400-56645600	Weak transcription	Fetal Stomach	stomach
46	chr19:56644400-56651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:56644800-56646000	Enhancers	NHDF-Ad	bronchial
48	chr19:56644800-56646200	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:56644800-56649000	Weak transcription	Adipose Nuclei	Adipose
50	chr19:56645000-56645800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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