Variant report

Variant	rs547192912
Chromosome Location	chr19:56088672-56088673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56086664..56089219-chr19:56150784..56152646,2	MCF-7	breast:
2	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
3	chr19:56085801..56089181-chr19:56090146..56094195,5	MCF-7	breast:
4	chr19:55916968..55919550-chr19:56086420..56090390,4	K562	blood:
5	chr19:56087478..56090277-chr19:56092054..56093869,2	MCF-7	breast:
6	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
7	chr19:55916968..55919340-chr19:56087208..56090390,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF579-1	chr19:56088136-56088780	ENSG00000267730.1

No data

Variant related genes	Relation type
ENSG00000171425	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000171443	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	esv3388302	chr19:56088140-56092838	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3423073	chr19:56088190-56091888	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3437537	chr19:56088665-56091513	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56075800-56090400	Weak transcription	Psoas Muscle	Psoas
2	chr19:56076000-56091000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:56076000-56091000	Weak transcription	Right Atrium	heart
4	chr19:56076600-56091000	Weak transcription	Fetal Heart	heart
5	chr19:56078600-56091000	Weak transcription	Fetal Kidney	kidney
6	chr19:56081200-56088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:56081800-56091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:56082200-56088800	Weak transcription	Pancreas	Pancrea
9	chr19:56083800-56091000	Weak transcription	HepG2	liver
10	chr19:56084200-56091000	Weak transcription	K562	blood
11	chr19:56085200-56090000	Weak transcription	Fetal Lung	lung
12	chr19:56085600-56088800	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:56086000-56090000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:56086000-56091000	Weak transcription	NH-A	brain
15	chr19:56086200-56088800	Weak transcription	Small Intestine	intestine
16	chr19:56086200-56091000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:56086200-56091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:56086400-56091200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:56086600-56088800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:56086600-56091000	Weak transcription	Fetal Brain Male	brain
21	chr19:56086600-56091400	Weak transcription	Primary T cells from cord blood	blood
22	chr19:56086800-56088800	Weak transcription	HSMMtube	muscle
23	chr19:56086800-56089200	Weak transcription	Esophagus	oesophagus
24	chr19:56086800-56090600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:56086800-56091000	Weak transcription	Brain Substantia Nigra	brain
26	chr19:56086800-56091000	Weak transcription	HMEC	breast
27	chr19:56087000-56091000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:56087000-56091200	Weak transcription	Stomach Mucosa	stomach
29	chr19:56087200-56090000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:56087200-56091000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:56087200-56091000	Weak transcription	GM12878-XiMat	blood
32	chr19:56087200-56091200	Weak transcription	Fetal Thymus	thymus
33	chr19:56087400-56089000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:56087400-56089400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:56087400-56089400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr19:56087400-56090000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:56087400-56090000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:56087400-56090200	Strong transcription	Fetal Intestine Large	intestine
39	chr19:56087400-56090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:56087400-56090400	Strong transcription	Brain Germinal Matrix	brain
41	chr19:56087400-56090400	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:56087400-56090600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:56087400-56090600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:56087400-56090600	Strong transcription	Fetal Brain Female	brain
45	chr19:56087600-56088800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:56087600-56089000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr19:56087600-56089200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:56087600-56089200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr19:56087600-56089200	Strong transcription	Osteobl	bone
50	chr19:56087600-56089400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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