Variant report

Variant	rs541229447
Chromosome Location	chr19:22021415-22021416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription 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	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22019000-22021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:22019000-22021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:22019000-22021800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:22019000-22022200	Weak transcription	Spleen	Spleen
5	chr19:22019000-22022400	Weak transcription	Lung	lung
6	chr19:22019000-22022600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:22019000-22022600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:22019000-22022800	Weak transcription	Gastric	stomach
9	chr19:22019000-22024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:22019000-22027800	Weak transcription	Small Intestine	intestine
11	chr19:22019000-22034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:22019200-22021600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:22019200-22021600	Weak transcription	HSMM	muscle
14	chr19:22019200-22021800	Weak transcription	Ovary	ovary
15	chr19:22019200-22022000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:22019200-22022200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:22019200-22022600	Weak transcription	Aorta	Aorta
18	chr19:22019200-22022800	Weak transcription	Esophagus	oesophagus
19	chr19:22019200-22023000	Weak transcription	NHEK	skin
20	chr19:22019200-22023600	Weak transcription	HSMMtube	muscle
21	chr19:22019200-22025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:22019200-22034000	Weak transcription	Colonic Mucosa	Colon
23	chr19:22019200-22034400	Weak transcription	Stomach Mucosa	stomach
24	chr19:22019400-22021600	Weak transcription	Brain Germinal Matrix	brain
25	chr19:22019400-22021800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:22019400-22021800	Weak transcription	HUVEC	blood vessel
27	chr19:22019400-22021800	Weak transcription	K562	blood
28	chr19:22019400-22022400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:22019400-22022400	Weak transcription	NH-A	brain
30	chr19:22019400-22023800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:22019400-22033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:22019600-22021600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:22019600-22021600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:22019600-22021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:22019600-22021600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:22019600-22021600	Weak transcription	NHDF-Ad	bronchial
37	chr19:22019600-22021600	Weak transcription	Osteobl	bone
38	chr19:22019600-22021800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:22019600-22021800	Weak transcription	Fetal Lung	lung
40	chr19:22019600-22021800	Weak transcription	Placenta	Placenta
41	chr19:22019600-22022000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:22019600-22022200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:22019600-22022200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:22019600-22022200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:22019600-22022200	Weak transcription	Fetal Brain Female	brain
46	chr19:22019600-22022200	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:22019600-22022200	Weak transcription	Fetal Stomach	stomach
48	chr19:22019600-22022200	Weak transcription	A549	lung
49	chr19:22019600-22022200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr19:22019600-22022400	Weak transcription	Primary monocytes fromperipheralblood	blood

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