Variant report

Variant	rs541866667
Chromosome Location	chr19:53095970-53095971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1805104	chr19:53090157-53100585	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv963070	chr19:53091108-53105222	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
16	esv2607292	chr19:53094426-53099769	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3495535	chr19:53095063-53100229	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
19	esv3384239	chr19:53095240-53099238	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv3409448	chr19:53095390-53099088	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv3387360	chr19:53095489-53097937	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
22	nsv512591	chr19:53095698-53097646	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv2456216	chr19:53095783-53098431	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1005702	chr19:53095828-53097800	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv2232002	chr19:53095833-53097778	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv3318624	chr19:53095888-53097712	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv3495536	chr19:53095906-53097782	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv3495539	chr19:53095920-53097737	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv3439199	chr19:53095931-53097745	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv3318625	chr19:53095947-53097678	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv3495538	chr19:53095948-53097658	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv3495537	chr19:53095968-53097658	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
2	chr19:53076400-53096000	Strong transcription	Dnd41	blood
3	chr19:53079400-53096000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:53087400-53103600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53087600-53099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:53087600-53099000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:53087600-53099000	Weak transcription	NHDF-Ad	bronchial
8	chr19:53087600-53099400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:53087600-53103600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:53087800-53098800	Weak transcription	HSMMtube	muscle
11	chr19:53088200-53099000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:53088400-53097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:53088400-53099000	Weak transcription	HUVEC	blood vessel
14	chr19:53088400-53103600	Weak transcription	Psoas Muscle	Psoas
15	chr19:53088600-53096000	Strong transcription	Fetal Stomach	stomach
16	chr19:53088600-53099200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:53088800-53098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:53088800-53099000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53088800-53099000	Weak transcription	Left Ventricle	heart
20	chr19:53088800-53099000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:53088800-53103600	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:53088800-53103600	Weak transcription	Right Ventricle	heart
23	chr19:53088800-53103800	Weak transcription	Right Atrium	heart
24	chr19:53089000-53103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:53089200-53099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:53089200-53099000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:53089400-53096400	Strong transcription	Placenta	Placenta
28	chr19:53089400-53099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:53089800-53100000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:53090200-53097600	Weak transcription	Stomach Mucosa	stomach
31	chr19:53090200-53099000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:53090800-53096000	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:53090800-53099000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:53090800-53100000	Weak transcription	Fetal Brain Female	brain
35	chr19:53091000-53104200	Weak transcription	Spleen	Spleen
36	chr19:53091200-53099200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:53091200-53099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:53091600-53099400	Weak transcription	HSMM	muscle
39	chr19:53091800-53096200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:53092000-53096000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:53092200-53103600	Weak transcription	Gastric	stomach
42	chr19:53093000-53096000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:53093000-53096000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:53093200-53096000	Strong transcription	Ovary	ovary
45	chr19:53093200-53097600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:53093400-53096000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:53093400-53096000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:53093400-53096200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:53093600-53096000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:53093600-53096000	Strong transcription	Fetal Lung	lung

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