Variant report

Variant	rs530076370
Chromosome Location	chr19:23516950-23516951
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
6	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv3429878	chr19:23246650-23590744	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	esv3410568	chr19:23246670-23590714	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	esv3433243	chr19:23249108-23585814	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	esv3387823	chr19:23265885-23590028	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
13	nsv579034	chr19:23387788-23610784	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	43 gene(s)	inside rSNPs	diseases
14	nsv833790	chr19:23405972-23557520	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	esv3332495	chr19:23451842-23598069	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	esv3319024	chr19:23456003-23598068	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	esv3319025	chr19:23456003-23598068	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers 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	39 gene(s)	inside rSNPs	diseases
18	esv3447830	chr19:23465035-23610690	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
19	esv3382338	chr19:23476728-23631356	Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
20	esv3323302	chr19:23477342-23648545	ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	esv3523857	chr19:23477614-23632199	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	esv3523858	chr19:23477614-23632199	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
23	nsv961202	chr19:23516052-23517106	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23494400-23518200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:23506000-23522000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:23506000-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:23506400-23522200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:23506600-23518400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:23508200-23517000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:23508400-23518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:23508400-23518400	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:23508600-23518400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:23510800-23522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:23511000-23522800	ZNF genes & repeats	Fetal Lung	lung
12	chr19:23511000-23523400	ZNF genes & repeats	Liver	Liver
13	chr19:23511200-23518200	Weak transcription	Colonic Mucosa	Colon
14	chr19:23512000-23522000	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:23512000-23523400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:23512200-23521400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:23512400-23520000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:23512400-23540400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:23512400-23548400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:23512600-23519600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:23512600-23520000	ZNF genes & repeats	Ovary	ovary
22	chr19:23513200-23517200	Strong transcription	Rectal Smooth Muscle	rectum
23	chr19:23513200-23517400	Strong transcription	HSMM	muscle
24	chr19:23513200-23570400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:23513400-23517000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:23513400-23518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:23513400-23522200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:23513600-23527400	Weak transcription	Osteobl	bone
29	chr19:23513800-23517000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr19:23513800-23517400	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:23513800-23520400	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr19:23513800-23521800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:23514200-23517200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr19:23514200-23519000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:23514200-23519600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr19:23514200-23519800	ZNF genes & repeats	Aorta	Aorta
37	chr19:23514200-23521000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:23514400-23518200	Weak transcription	HSMMtube	muscle
39	chr19:23514400-23518600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:23514400-23519000	Weak transcription	Fetal Heart	heart
41	chr19:23514600-23518400	Weak transcription	Brain Angular Gyrus	brain
42	chr19:23515000-23517200	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr19:23515000-23520000	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr19:23515200-23520400	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr19:23515400-23517400	ZNF genes & repeats	Fetal Brain Male	brain
46	chr19:23515400-23519400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr19:23515400-23520400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr19:23515400-23522400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:23515400-23523000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:23515800-23522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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