Variant report

Variant	rs111611820
Chromosome Location	chr19:52644095-52644096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:52641433-52644116	IMR90	lung:	n/a	chr19:52642119-52642128 chr19:52642121-52642130

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
2	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
3	chr19:52641479..52644491-chr19:52690575..52695402,7	MCF-7	breast:
4	chr19:52641278..52644856-chr19:52672246..52674908,4	MCF-7	breast:
5	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:
6	chr19:52641710..52644473-chr19:52838292..52841252,2	MCF-7	breast:
7	chr19:52633223..52639825-chr19:52641959..52644424,7	MCF-7	breast:
8	chr19:52641405..52644253-chr19:52691691..52696539,6	MCF-7	breast:

No data

Variant related genes	Relation type
RPL37P23	TF binding region
ENSG00000268458	TF binding region
ZNF616	TF binding region
ENSG00000196267	Chromatin interaction
ENSG00000267827	Chromatin interaction
ENSG00000197608	Chromatin interaction
ENSG00000167554	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000238630	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv960860	chr19:52643619-52646538	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52641600-52644200	Active TSS	Psoas Muscle	Psoas
2	chr19:52641800-52644200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr19:52642200-52644200	Active TSS	Stomach Smooth Muscle	stomach
4	chr19:52643200-52644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:52643400-52644400	Enhancers	Lung	lung
7	chr19:52643400-52645200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr19:52643600-52644400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr19:52643600-52645000	Enhancers	Placenta	Placenta
10	chr19:52643800-52644200	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:52643800-52644200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:52643800-52644200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:52643800-52644200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:52643800-52644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:52643800-52644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:52643800-52644200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:52643800-52644200	Enhancers	Colon Smooth Muscle	Colon
18	chr19:52643800-52644200	Enhancers	Fetal Heart	heart
19	chr19:52643800-52644200	Enhancers	Fetal Intestine Large	intestine
20	chr19:52643800-52644200	Enhancers	Fetal Intestine Small	intestine
21	chr19:52643800-52644200	Enhancers	Fetal Muscle Trunk	muscle
22	chr19:52643800-52644200	Enhancers	Fetal Muscle Leg	muscle
23	chr19:52643800-52644200	Enhancers	Fetal Stomach	stomach
24	chr19:52643800-52644200	Enhancers	Left Ventricle	heart
25	chr19:52643800-52644200	Enhancers	Right Atrium	heart
26	chr19:52643800-52644400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:52643800-52644400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr19:52643800-52645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:52643800-52646200	Weak transcription	Thymus	Thymus
30	chr19:52644000-52644200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:52644000-52644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:52644000-52644200	Active TSS	Primary T cells from cord blood	blood
33	chr19:52644000-52644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:52644000-52644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:52644000-52644200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr19:52644000-52644200	Enhancers	Adipose Nuclei	Adipose
37	chr19:52644000-52644200	Enhancers	Brain Germinal Matrix	brain
38	chr19:52644000-52644200	Enhancers	Brain Hippocampus Middle	brain
39	chr19:52644000-52644200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:52644000-52644200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:52644000-52644200	Enhancers	NHDF-Ad	bronchial
42	chr19:52644000-52644200	Weak transcription	NHEK	skin
43	chr19:52644000-52644200	Enhancers	Osteobl	bone
44	chr19:52644000-52644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr19:52644000-52644400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr19:52644000-52644400	Enhancers	Dnd41	blood
47	chr19:52644000-52644600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:52644000-52644600	Enhancers	HepG2	liver
49	chr19:52644000-52644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:52644000-52645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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