Variant report

Variant	rs185918770
Chromosome Location	chr19:53092923-53092924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	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

No data

Chromatin state (count:107 , 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	chr19:53079400-53094200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:53079400-53096000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:53087400-53095200	Weak transcription	Brain Anterior Caudate	brain
6	chr19:53087400-53103600	Weak transcription	Brain Substantia Nigra	brain
7	chr19:53087600-53095000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:53087600-53095400	Weak transcription	Fetal Kidney	kidney
9	chr19:53087600-53095400	Weak transcription	NHLF	lung
10	chr19:53087600-53099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:53087600-53099000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:53087600-53099000	Weak transcription	NHDF-Ad	bronchial
13	chr19:53087600-53099400	Weak transcription	Brain Angular Gyrus	brain
14	chr19:53087600-53103600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:53087800-53095200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:53087800-53095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:53087800-53095200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:53087800-53095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:53087800-53095400	Weak transcription	K562	blood
20	chr19:53087800-53098800	Weak transcription	HSMMtube	muscle
21	chr19:53088200-53099000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:53088400-53097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:53088400-53099000	Weak transcription	HUVEC	blood vessel
24	chr19:53088400-53103600	Weak transcription	Psoas Muscle	Psoas
25	chr19:53088600-53094800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:53088600-53094800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:53088600-53095400	Weak transcription	Osteobl	bone
28	chr19:53088600-53095800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:53088600-53096000	Strong transcription	Fetal Stomach	stomach
30	chr19:53088600-53099200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:53088800-53093000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr19:53088800-53093200	Weak transcription	Aorta	Aorta
33	chr19:53088800-53093200	Weak transcription	Ovary	ovary
34	chr19:53088800-53093800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:53088800-53095400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:53088800-53095600	Weak transcription	Adipose Nuclei	Adipose
37	chr19:53088800-53095800	Weak transcription	Pancreas	Pancrea
38	chr19:53088800-53098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:53088800-53099000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:53088800-53099000	Weak transcription	Left Ventricle	heart
41	chr19:53088800-53099000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:53088800-53103600	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:53088800-53103600	Weak transcription	Right Ventricle	heart
44	chr19:53088800-53103800	Weak transcription	Right Atrium	heart
45	chr19:53089000-53103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr19:53089200-53093000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:53089200-53093800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:53089200-53094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:53089200-53094800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:53089200-53095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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