Variant report

Variant	rs12976345
Chromosome Location	chr19:41152230-41152231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41120433..41122395-chr19:41149709..41152254,3	MCF-7	breast:
2	chr19:41120316..41124225-chr19:41147891..41152450,4	K562	blood:
3	chr19:41145219..41147338-chr19:41149537..41152318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv2489	chr19:41145034-41182170	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
15	esv993784	chr19:41150978-41160426	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41140800-41152600	Weak transcription	Right Atrium	heart
2	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
3	chr19:41146800-41152400	Weak transcription	Colonic Mucosa	Colon
4	chr19:41146800-41152400	Weak transcription	Lung	lung
5	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
6	chr19:41147600-41152400	Weak transcription	Ovary	ovary
7	chr19:41147600-41152400	Weak transcription	NHLF	lung
8	chr19:41150800-41152400	Enhancers	Rectal Smooth Muscle	rectum
9	chr19:41151000-41152800	Enhancers	Fetal Muscle Trunk	muscle
10	chr19:41151200-41153000	Enhancers	Fetal Muscle Leg	muscle
11	chr19:41151200-41153000	Enhancers	Placenta	Placenta
12	chr19:41151400-41152400	Weak transcription	Left Ventricle	heart
13	chr19:41151400-41152600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:41151400-41152800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:41151600-41152400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:41151600-41152400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:41151600-41152800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:41151600-41152800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:41151600-41152800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr19:41151600-41152800	Active TSS	Duodenum Mucosa	Duodenum
21	chr19:41151600-41152800	Flanking Active TSS	HUVEC	blood vessel
22	chr19:41151600-41153000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:41151600-41153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:41151600-41153000	Enhancers	Fetal Kidney	kidney
25	chr19:41151600-41153000	Enhancers	HMEC	breast
26	chr19:41151800-41152400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41151800-41152400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr19:41151800-41152400	Enhancers	K562	blood
29	chr19:41151800-41152400	Active TSS	NHDF-Ad	bronchial
30	chr19:41151800-41152600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41151800-41152600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:41151800-41152600	Enhancers	Fetal Heart	heart
33	chr19:41151800-41152600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:41151800-41152600	Flanking Active TSS	NH-A	brain
35	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:41151800-41152800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:41151800-41152800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:41151800-41152800	Enhancers	Stomach Mucosa	stomach
40	chr19:41151800-41152800	Flanking Active TSS	HSMM	muscle
41	chr19:41151800-41152800	Enhancers	NHEK	skin
42	chr19:41151800-41152800	Flanking Active TSS	Osteobl	bone
43	chr19:41151800-41153000	Active TSS	Stomach Smooth Muscle	stomach
44	chr19:41151800-41153000	Flanking Active TSS	Hela-S3	cervix
45	chr19:41151800-41153200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:41152000-41152400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:41152000-41152400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:41152000-41152400	Active TSS	Adipose Nuclei	Adipose
49	chr19:41152000-41152400	Active TSS	Brain Angular Gyrus	brain
50	chr19:41152000-41152400	Active TSS	Brain Inferior Temporal Lobe	brain

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