Variant report

Variant	rs200592312
Chromosome Location	chr19:53105824-53105825
allele	-/GA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:53105140-53105831	GM12878	blood:	n/a	n/a
2	MAZ	chr19:53103821-53106145	IMR90	lung:	n/a	chr19:53104498-53104508 chr19:53104431-53104441

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:52771721..52774334-chr19:53104602..53106334,2	MCF-7	breast:
2	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
3	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
4	chr19:53100001..53102540-chr19:53104328..53106583,2	MCF-7	breast:
5	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
6	chr19:53091479..53093203-chr19:53104357..53107211,2	MCF-7	breast:
7	chr19:53104394..53106484-chr19:53154672..53157186,2	K562	blood:
8	chr19:53100919..53102551-chr19:53104466..53106179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000123870	Chromatin interaction
ENSG00000268970	Chromatin interaction
ENSG00000269825	Chromatin interaction
ENSG00000196214	Chromatin interaction
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	9 gene(s)	inside rSNPs	diseases
6	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
9	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv912314	chr19:53105547-53144082	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv912315	chr19:53105547-53149967	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv912316	chr19:53105547-53158023	Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53104000-53106000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:53104000-53106000	Active TSS	Fetal Intestine Small	intestine
3	chr19:53104000-53106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:53105200-53115800	Weak transcription	HUVEC	blood vessel
6	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
7	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
8	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
9	chr19:53105400-53106000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:53105400-53106000	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:53105400-53106000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:53105400-53106200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:53105400-53106200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:53105400-53106200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:53105400-53106200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:53105400-53106200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr19:53105400-53106200	Enhancers	Fetal Muscle Trunk	muscle
18	chr19:53105400-53107000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:53105400-53108000	Weak transcription	Fetal Stomach	stomach
20	chr19:53105400-53108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:53105400-53114800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:53105400-53115600	Weak transcription	HSMM	muscle
23	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
24	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:53105400-53116400	Weak transcription	Ovary	ovary
26	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
27	chr19:53105600-53106000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:53105600-53106000	Enhancers	Primary B cells from cord blood	blood
29	chr19:53105600-53106000	Enhancers	Primary T cells from cord blood	blood
30	chr19:53105600-53106000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:53105600-53106000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:53105600-53106000	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr19:53105600-53106000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr19:53105600-53106000	Enhancers	HepG2	liver
35	chr19:53105600-53106000	Enhancers	HMEC	breast
36	chr19:53105600-53106200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:53105600-53106200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:53105600-53106200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr19:53105600-53106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:53105600-53106400	Enhancers	Thymus	Thymus
41	chr19:53105600-53106600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:53105600-53106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:53105600-53106800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:53105600-53107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:53105600-53107600	Enhancers	Osteobl	bone
46	chr19:53105600-53107800	Weak transcription	Colonic Mucosa	Colon
47	chr19:53105600-53107800	Weak transcription	NHEK	skin
48	chr19:53105600-53108000	Weak transcription	Spleen	Spleen
49	chr19:53105600-53108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:53105600-53108800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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