Variant report

Variant	rs375514629
Chromosome Location	chr19:21233702-21233703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers 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
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong 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	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak 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	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers 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
11	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
5	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
8	chr19:21220400-21235200	Weak transcription	NHDF-Ad	bronchial
9	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:21223400-21235600	Weak transcription	NH-A	brain
13	chr19:21225200-21234200	Weak transcription	A549	lung
14	chr19:21225600-21237200	Weak transcription	HUVEC	blood vessel
15	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
16	chr19:21227800-21247200	Weak transcription	HepG2	liver
17	chr19:21228800-21235400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:21229600-21235600	Weak transcription	Brain Substantia Nigra	brain
19	chr19:21229800-21235400	Weak transcription	Brain Anterior Caudate	brain
20	chr19:21230600-21235600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:21230800-21234000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:21230800-21234200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:21230800-21234600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:21230800-21235200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:21230800-21235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:21230800-21235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:21230800-21235400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:21230800-21235400	Weak transcription	HSMM	muscle
30	chr19:21230800-21235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:21230800-21235600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:21230800-21235600	Weak transcription	Brain Angular Gyrus	brain
33	chr19:21230800-21235600	Weak transcription	Left Ventricle	heart
34	chr19:21230800-21235600	Weak transcription	NHEK	skin
35	chr19:21230800-21235800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:21230800-21237000	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:21230800-21238600	Weak transcription	NHLF	lung
38	chr19:21230800-21240400	Weak transcription	HSMMtube	muscle
39	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:21231000-21235600	Weak transcription	HMEC	breast
41	chr19:21231000-21238200	Weak transcription	Stomach Mucosa	stomach
42	chr19:21231000-21239000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:21231600-21233800	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr19:21231600-21234400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:21231600-21234600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr19:21231600-21235000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:21231600-21235400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:21231600-21235600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:21231600-21239400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr19:21231600-21241000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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