Variant report

Variant	rs538912321
Chromosome Location	chr19:43942815-43942816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
2	chr19:43942702..43944453-chr19:44007455..44009598,2	MCF-7	breast:
3	chr19:43942400..43947044-chr19:43967250..43970389,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176531	Chromatin interaction
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1060280	chr19:43866823-43959685	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv520852	chr19:43885085-43960114	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv579850	chr19:43885085-43960114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1066231	chr19:43918840-43954915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv579851	chr19:43920612-43955114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv1061862	chr19:43925290-43954915	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1058848	chr19:43925290-43957387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv2501	chr19:43942581-43978424	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43930400-43943000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:43937600-43946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:43940600-43944800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:43941600-43944200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:43941600-43944200	Enhancers	Fetal Thymus	thymus
6	chr19:43941600-43944400	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:43941800-43943200	Enhancers	Right Ventricle	heart
8	chr19:43941800-43943800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:43941800-43944000	Enhancers	Esophagus	oesophagus
10	chr19:43941800-43944000	Enhancers	Spleen	Spleen
11	chr19:43941800-43944200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:43941800-43944200	Enhancers	Thymus	Thymus
13	chr19:43942000-43943000	Enhancers	Lung	lung
14	chr19:43942000-43943200	Enhancers	Colonic Mucosa	Colon
15	chr19:43942000-43944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:43942000-43944200	Enhancers	Primary B cells from cord blood	blood
17	chr19:43942000-43944200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:43942000-43944200	Enhancers	Fetal Stomach	stomach
19	chr19:43942200-43944200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:43942400-43943200	Enhancers	HMEC	breast
21	chr19:43942400-43943800	Enhancers	Primary hematopoietic stem cells	blood
22	chr19:43942400-43943800	Enhancers	Fetal Muscle Trunk	muscle
23	chr19:43942400-43944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:43942400-43944000	Enhancers	HSMMtube	muscle
25	chr19:43942400-43944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:43942600-43943000	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr19:43942600-43943000	Bivalent Enhancer	Placenta	Placenta
28	chr19:43942600-43943000	Flanking Active TSS	NHEK	skin
29	chr19:43942600-43943200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:43942600-43943200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr19:43942600-43943200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:43942600-43943200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:43942600-43943200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr19:43942600-43943200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr19:43942600-43943200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr19:43942600-43943200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:43942600-43943200	Enhancers	Fetal Lung	lung
38	chr19:43942600-43943200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr19:43942600-43943200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr19:43942600-43943200	Flanking Active TSS	A549	lung
41	chr19:43942600-43943200	Flanking Active TSS	Hela-S3	cervix
42	chr19:43942600-43943200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:43942600-43943400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:43942600-43943400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr19:43942600-43943400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr19:43942600-43943400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr19:43942600-43943400	Enhancers	Dnd41	blood
48	chr19:43942600-43943600	Enhancers	Fetal Kidney	kidney
49	chr19:43942600-43943800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:43942600-43943800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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