Variant report

Variant	rs200372767
Chromosome Location	chr19:41152748-41152749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	esv3509800	chr19:41152400-41158141	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
2	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
3	chr19:41151000-41152800	Enhancers	Fetal Muscle Trunk	muscle
4	chr19:41151200-41153000	Enhancers	Fetal Muscle Leg	muscle
5	chr19:41151200-41153000	Enhancers	Placenta	Placenta
6	chr19:41151400-41152800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:41151600-41152800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:41151600-41152800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr19:41151600-41152800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr19:41151600-41152800	Active TSS	Duodenum Mucosa	Duodenum
11	chr19:41151600-41152800	Flanking Active TSS	HUVEC	blood vessel
12	chr19:41151600-41153000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:41151600-41153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:41151600-41153000	Enhancers	Fetal Kidney	kidney
15	chr19:41151600-41153000	Enhancers	HMEC	breast
16	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:41151800-41152800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:41151800-41152800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:41151800-41152800	Enhancers	Stomach Mucosa	stomach
21	chr19:41151800-41152800	Flanking Active TSS	HSMM	muscle
22	chr19:41151800-41152800	Enhancers	NHEK	skin
23	chr19:41151800-41152800	Flanking Active TSS	Osteobl	bone
24	chr19:41151800-41153000	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:41151800-41153000	Flanking Active TSS	Hela-S3	cervix
26	chr19:41151800-41153200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:41152000-41152800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:41152000-41152800	Enhancers	Brain Anterior Caudate	brain
29	chr19:41152000-41153000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:41152200-41152800	Active TSS	Brain Cingulate Gyrus	brain
31	chr19:41152200-41152800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr19:41152200-41152800	Flanking Active TSS	Fetal Lung	lung
33	chr19:41152200-41153000	Enhancers	HSMMtube	muscle
34	chr19:41152400-41152800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:41152400-41152800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41152400-41152800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr19:41152400-41152800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr19:41152400-41152800	Enhancers	Colonic Mucosa	Colon
39	chr19:41152400-41152800	Enhancers	Ovary	ovary
40	chr19:41152400-41152800	Flanking Active TSS	Psoas Muscle	Psoas
41	chr19:41152400-41152800	Flanking Active TSS	K562	blood
42	chr19:41152400-41152800	Flanking Active TSS	NHLF	lung
43	chr19:41152400-41153000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:41152400-41153000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:41152400-41153000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:41152400-41153000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr19:41152400-41153000	Enhancers	Left Ventricle	heart
48	chr19:41152400-41153000	Enhancers	Lung	lung
49	chr19:41152400-41153000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr19:41152400-41153000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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