Variant report

Variant	rs573520592
Chromosome Location	chr19:39624643-39624644
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39340180..39342670-chr19:39622996..39625120,2	MCF-7	breast:
2	chr19:39619372..39620875-chr19:39624285..39626260,2	K562	blood:
3	chr19:39622898..39624850-chr19:39631546..39633915,2	MCF-7	breast:
4	chr19:39624151..39625876-chr19:39627199..39629585,2	K562	blood:
5	chr19:39622646..39624803-chr19:39656922..39658959,2	MCF-7	breast:
6	chr19:39618750..39620262-chr19:39623192..39625353,2	K562	blood:
7	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:
8	chr19:39622591..39626006-chr19:39627126..39631368,3	MCF-7	breast:
9	chr19:39622616..39624773-chr19:39692455..39694487,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv2545161	chr19:39624402-39625800	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39617000-39630800	Weak transcription	Primary T cells from cord blood	blood
2	chr19:39617000-39635000	Weak transcription	Aorta	Aorta
3	chr19:39617200-39624800	Enhancers	Left Ventricle	heart
4	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:39617600-39625600	Enhancers	Spleen	Spleen
6	chr19:39617600-39627600	Enhancers	Fetal Heart	heart
7	chr19:39617800-39625000	Enhancers	Ovary	ovary
8	chr19:39617800-39625200	Enhancers	Pancreas	Pancrea
9	chr19:39617800-39627200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr19:39617800-39628600	Enhancers	Placenta	Placenta
11	chr19:39617800-39630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
13	chr19:39618200-39628400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:39618400-39626800	Weak transcription	NHEK	skin
15	chr19:39618400-39646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:39620000-39627200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:39620000-39630000	Weak transcription	HepG2	liver
18	chr19:39620200-39625000	Enhancers	Lung	lung
19	chr19:39620400-39624800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:39620600-39626800	Enhancers	Fetal Intestine Large	intestine
21	chr19:39621000-39624800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:39621000-39627200	Enhancers	Fetal Lung	lung
23	chr19:39621000-39628400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:39621400-39624800	Enhancers	Gastric	stomach
25	chr19:39621400-39625200	Enhancers	Duodenum Mucosa	Duodenum
26	chr19:39621400-39628000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr19:39621600-39624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr19:39621600-39624800	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:39621600-39624800	Enhancers	Colon Smooth Muscle	Colon
30	chr19:39621600-39624800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr19:39621600-39624800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr19:39621600-39625000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr19:39621600-39627800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr19:39621800-39624800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:39621800-39624800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:39621800-39627400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr19:39622200-39625000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr19:39622200-39627200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:39622200-39628200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:39622400-39627000	Weak transcription	Small Intestine	intestine
41	chr19:39622400-39629000	Weak transcription	NH-A	brain
42	chr19:39622400-39635200	Weak transcription	Fetal Brain Female	brain
43	chr19:39622600-39639600	Weak transcription	HSMM	muscle
44	chr19:39622800-39626800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:39622800-39627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:39623000-39625000	Enhancers	Brain Anterior Caudate	brain
47	chr19:39623000-39635200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr19:39623200-39624800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:39623400-39624800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:39623400-39624800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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