Variant report

Variant	rs548000695
Chromosome Location	chr19:36621463-36621464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36621233..36623122-chr19:37063921..37066153,2	K562	blood:
2	chr19:36617223..36621168-chr19:36621174..36623571,4	MCF-7	breast:
3	chr19:36618936..36620566-chr19:36620843..36623517,2	MCF-7	breast:
4	chr19:36548167..36550367-chr19:36618997..36621964,2	MCF-7	breast:
5	chr19:36607813..36612546-chr19:36618709..36622770,5	MCF-7	breast:
6	chr19:36617250..36625256-chr19:36625801..36633837,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233527	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000126247	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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
6	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:36619600-36622800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:36619600-36622800	Weak transcription	Lung	lung
4	chr19:36619600-36623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:36619600-36623400	Weak transcription	Gastric	stomach
6	chr19:36619600-36623400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:36619600-36627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:36619800-36621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36619800-36621600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:36619800-36621600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr19:36619800-36622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:36619800-36622000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:36619800-36622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:36619800-36622000	Weak transcription	Adipose Nuclei	Adipose
16	chr19:36619800-36622200	Weak transcription	Primary B cells from cord blood	blood
17	chr19:36619800-36622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:36619800-36622400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:36619800-36622600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:36619800-36622600	Weak transcription	HMEC	breast
21	chr19:36619800-36622600	Weak transcription	NHEK	skin
22	chr19:36619800-36623000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:36619800-36623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:36619800-36623400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:36619800-36623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:36619800-36623400	Weak transcription	Primary T cells from cord blood	blood
27	chr19:36619800-36623400	Weak transcription	GM12878-XiMat	blood
28	chr19:36619800-36623400	Weak transcription	HUVEC	blood vessel
29	chr19:36619800-36623400	Weak transcription	NH-A	brain
30	chr19:36619800-36623600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:36619800-36624400	Enhancers	Placenta	Placenta
32	chr19:36619800-36624600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:36619800-36627200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:36619800-36627200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:36619800-36627600	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:36619800-36627600	Weak transcription	Right Atrium	heart
37	chr19:36619800-36627600	Weak transcription	Osteobl	bone
38	chr19:36619800-36627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:36619800-36627800	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
41	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:36620000-36621800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:36620000-36621800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:36620000-36622000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:36620000-36622000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:36620000-36622600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:36620000-36622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:36620000-36623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:36620000-36623400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:36620000-36623800	Enhancers	Primary neutrophils fromperipheralblood	blood

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